Generation of an mESC model with a human hemophilia B nonsense mutation via CRISPR/Cas9 technology View Full Text


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2022-07-26

AUTHORS

Yanchun Ma, Wenwen Sun, Lidong Zhao, Mingze Yao, Changxin Wu, Pengfei Su, Linhua Yang, Gang Wang

ABSTRACT

BackgroundHemophilia B is a rare inherited genetic bleeding disorder caused by a deficiency or lack of coagulation factor IX, the gene for which (F9) is located on the X chromosome. Hemophilia B is currently incurable and the standard treatment is coagulation factor replacement therapy. Although gene therapy has the potential to cure hemophilia, significant barriers are still needed to be overcome, e.g., off-target effects and immunoreactivity, so new approaches must be explored. Nonsense mutations account for 8% of all the hemophilia B mutation types and can result in the development of coagulation factor inhibitors. In this study, CRISPR/Cas9 technology was used to construct a mouse embryonic stem cell model with a hemophilia B nonsense mutation (F9 c.223C > T) in humans to investigate the pathogenesis and treatment of nonsense mutations in hemophilia B.MethodsFirst, a donor plasmid with a mutation (F9 c.223 C > T) and sgRNAs were constructed. Second, both the donor plasmid and the px330-sgRNA were electroporated into mouse embryonic stem cell, and the mutant cells were then screened using puromycin and red fluorescence. Third, the mutant cell lines were tested for pluripotency and the ability to differentiate into three layers. Finally, the effect of mutation on gene function was studied in the differentiation system.ResultsThe mutant vector and effective sgRNA were constructed, and the mutant cell line was screened. This mutant cell line exhibited pluripotency and the ability to differentiate into three layers. This point mutation affects F9 expression at both the RNA and protein levels in the differentiation system.ConclusionsThe mutant cell line obtained in the current study had a single-base mutation rather than a base deletion or insertion in the exon, which is more similar to clinical cases. In addition, the mutant has the characteristics of mouse embryonic stem cells, and this point mutation affects F9 gene transcription and translation, which can be used as a disease model for studying the pathogenesis and treatment of hemophilia at the stem cell level. More... »

PAGES

353

References to SciGraph publications

Identifiers

URI

http://scigraph.springernature.com/pub.10.1186/s13287-022-03036-2

DOI

http://dx.doi.org/10.1186/s13287-022-03036-2

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1149784456

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/35883203


Indexing Status Check whether this publication has been indexed by Scopus and Web Of Science using the SN Indexing Status Tool
Incoming Citations Browse incoming citations for this publication using opencitations.net

JSON-LD is the canonical representation for SciGraph data.

TIP: You can open this SciGraph record using an external JSON-LD service: JSON-LD Playground Google SDTT

[
  {
    "@context": "https://springernature.github.io/scigraph/jsonld/sgcontext.json", 
    "about": [
      {
        "id": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/06", 
        "inDefinedTermSet": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/", 
        "name": "Biological Sciences", 
        "type": "DefinedTerm"
      }, 
      {
        "id": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/10", 
        "inDefinedTermSet": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/", 
        "name": "Technology", 
        "type": "DefinedTerm"
      }, 
      {
        "id": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/0601", 
        "inDefinedTermSet": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/", 
        "name": "Biochemistry and Cell Biology", 
        "type": "DefinedTerm"
      }, 
      {
        "id": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/0604", 
        "inDefinedTermSet": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/", 
        "name": "Genetics", 
        "type": "DefinedTerm"
      }, 
      {
        "id": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/1004", 
        "inDefinedTermSet": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/", 
        "name": "Medical Biotechnology", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Animals", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "CRISPR-Cas Systems", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Codon, Nonsense", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Factor IX", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Hemophilia A", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Hemophilia B", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Humans", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Mice", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Mouse Embryonic Stem Cells", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Mutation", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Technology", 
        "type": "DefinedTerm"
      }
    ], 
    "author": [
      {
        "affiliation": {
          "alternateName": "Department of Hematology, The Second Hospital of Shanxi Medical University, 030001, Taiyuan, Shanxi Province, China", 
          "id": "http://www.grid.ac/institutes/grid.452845.a", 
          "name": [
            "Department of Hematology, The Second Hospital of Shanxi Medical University, 030001, Taiyuan, Shanxi Province, China"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Ma", 
        "givenName": "Yanchun", 
        "id": "sg:person.014302567052.81", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.014302567052.81"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Department of Hematology, The Second Hospital of Shanxi Medical University, 030001, Taiyuan, Shanxi Province, China", 
          "id": "http://www.grid.ac/institutes/grid.452845.a", 
          "name": [
            "Department of Hematology, The Second Hospital of Shanxi Medical University, 030001, Taiyuan, Shanxi Province, China"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Sun", 
        "givenName": "Wenwen", 
        "id": "sg:person.012112245452.48", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.012112245452.48"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Department of Hematology, The Second Hospital of Shanxi Medical University, 030001, Taiyuan, Shanxi Province, China", 
          "id": "http://www.grid.ac/institutes/grid.452845.a", 
          "name": [
            "Department of Hematology, The Second Hospital of Shanxi Medical University, 030001, Taiyuan, Shanxi Province, China"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Zhao", 
        "givenName": "Lidong", 
        "id": "sg:person.016707766572.19", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.016707766572.19"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Institutes of Biomedical Sciences, Shanxi University, 030006, Taiyuan, Shanxi Province, China", 
          "id": "http://www.grid.ac/institutes/grid.163032.5", 
          "name": [
            "Institutes of Biomedical Sciences, Shanxi University, 030006, Taiyuan, Shanxi Province, China"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Yao", 
        "givenName": "Mingze", 
        "id": "sg:person.01346154231.22", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01346154231.22"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Institutes of Biomedical Sciences, Shanxi University, 030006, Taiyuan, Shanxi Province, China", 
          "id": "http://www.grid.ac/institutes/grid.163032.5", 
          "name": [
            "Institutes of Biomedical Sciences, Shanxi University, 030006, Taiyuan, Shanxi Province, China"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Wu", 
        "givenName": "Changxin", 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Institutes of Biomedical Sciences, Shanxi University, 030006, Taiyuan, Shanxi Province, China", 
          "id": "http://www.grid.ac/institutes/grid.163032.5", 
          "name": [
            "Institutes of Biomedical Sciences, Shanxi University, 030006, Taiyuan, Shanxi Province, China"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Su", 
        "givenName": "Pengfei", 
        "id": "sg:person.012652371361.71", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.012652371361.71"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Department of Hematology, The Second Hospital of Shanxi Medical University, 030001, Taiyuan, Shanxi Province, China", 
          "id": "http://www.grid.ac/institutes/grid.452845.a", 
          "name": [
            "Department of Hematology, The Second Hospital of Shanxi Medical University, 030001, Taiyuan, Shanxi Province, China"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Yang", 
        "givenName": "Linhua", 
        "id": "sg:person.0674432642.86", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0674432642.86"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Department of Hematology, The Second Hospital of Shanxi Medical University, 030001, Taiyuan, Shanxi Province, China", 
          "id": "http://www.grid.ac/institutes/grid.452845.a", 
          "name": [
            "Department of Hematology, The Second Hospital of Shanxi Medical University, 030001, Taiyuan, Shanxi Province, China"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Wang", 
        "givenName": "Gang", 
        "id": "sg:person.01205734576.79", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01205734576.79"
        ], 
        "type": "Person"
      }
    ], 
    "citation": [
      {
        "id": "sg:pub.10.1038/aps.2010.100", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1003210223", 
          "https://doi.org/10.1038/aps.2010.100"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/nsmb.1550", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1005363300", 
          "https://doi.org/10.1038/nsmb.1550"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1007/978-1-0716-0290-4_19", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1124458296", 
          "https://doi.org/10.1007/978-1-0716-0290-4_19"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/nmeth.2649", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1008703730", 
          "https://doi.org/10.1038/nmeth.2649"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/s41572-021-00278-x", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1139119205", 
          "https://doi.org/10.1038/s41572-021-00278-x"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/s41422-020-0293-x", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1125493212", 
          "https://doi.org/10.1038/s41422-020-0293-x"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/nbt.3437", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1014083513", 
          "https://doi.org/10.1038/nbt.3437"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1007/s11427-006-0259-3", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1036267125", 
          "https://doi.org/10.1007/s11427-006-0259-3"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/nmeth.4293", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1085714811", 
          "https://doi.org/10.1038/nmeth.4293"
        ], 
        "type": "CreativeWork"
      }
    ], 
    "datePublished": "2022-07-26", 
    "datePublishedReg": "2022-07-26", 
    "description": "BackgroundHemophilia B is a rare inherited genetic bleeding disorder caused by a deficiency or lack of coagulation factor IX, the gene for which (F9) is located on the X chromosome. Hemophilia B is currently incurable and the standard treatment is coagulation factor replacement therapy. Although gene therapy has the potential to cure hemophilia, significant barriers are still needed to be overcome, e.g., off-target effects and immunoreactivity, so new approaches must be explored. Nonsense mutations account for 8% of all the hemophilia B mutation types and can result in the development of coagulation factor inhibitors. In this study, CRISPR/Cas9 technology was used to construct a mouse embryonic stem cell model with a hemophilia B nonsense mutation (F9 c.223C\u2009>\u2009T) in humans to investigate the pathogenesis and treatment of nonsense mutations in hemophilia B.MethodsFirst, a donor plasmid with a mutation (F9 c.223 C\u2009>\u2009T) and sgRNAs were constructed. Second, both the donor plasmid and the px330-sgRNA were electroporated into mouse embryonic stem cell, and the mutant cells were then screened using puromycin and red fluorescence. Third, the mutant cell lines were tested for pluripotency and the ability to differentiate into three layers. Finally, the effect of mutation on gene function was studied in the differentiation system.ResultsThe mutant vector and effective sgRNA were constructed, and the mutant cell line was screened. This mutant cell line exhibited pluripotency and the ability to differentiate into three layers. This point mutation affects F9 expression at both the RNA and protein levels in the differentiation system.ConclusionsThe mutant cell line obtained in the current study had a single-base mutation rather than a base deletion or insertion in the exon, which is more similar to clinical cases. In addition, the mutant has the characteristics of mouse embryonic stem cells, and this point mutation affects F9 gene transcription and translation, which can be used as a disease model for studying the pathogenesis and treatment of hemophilia at the stem cell level.", 
    "genre": "article", 
    "id": "sg:pub.10.1186/s13287-022-03036-2", 
    "isAccessibleForFree": true, 
    "isFundedItemOf": [
      {
        "id": "sg:grant.8362475", 
        "type": "MonetaryGrant"
      }, 
      {
        "id": "sg:grant.8886764", 
        "type": "MonetaryGrant"
      }
    ], 
    "isPartOf": [
      {
        "id": "sg:journal.1043222", 
        "issn": [
          "1757-6512"
        ], 
        "name": "Stem Cell Research & Therapy", 
        "publisher": "Springer Nature", 
        "type": "Periodical"
      }, 
      {
        "issueNumber": "1", 
        "type": "PublicationIssue"
      }, 
      {
        "type": "PublicationVolume", 
        "volumeNumber": "13"
      }
    ], 
    "keywords": [
      "mutant cell lines", 
      "mouse embryonic stem cells", 
      "embryonic stem cells", 
      "nonsense mutation", 
      "differentiation system", 
      "mouse embryonic stem cell model", 
      "embryonic stem cell model", 
      "cell lines", 
      "donor plasmid", 
      "point mutations", 
      "CRISPR/Cas9 technology", 
      "stem cells", 
      "effects of mutations", 
      "stem cell model", 
      "gene function", 
      "mutant cells", 
      "stem cell level", 
      "gene transcription", 
      "single base mutation", 
      "X chromosome", 
      "CRISPR/", 
      "Cas9 technology", 
      "off-target effects", 
      "gene therapy", 
      "base deletion", 
      "mutations", 
      "pluripotency", 
      "protein levels", 
      "genetic bleeding disorder", 
      "cell level", 
      "coagulation factor IX", 
      "cell model", 
      "mutant vector", 
      "plasmid", 
      "red fluorescence", 
      "mutation type", 
      "cells", 
      "disease models", 
      "treatment of hemophilia", 
      "mutants", 
      "chromosomes", 
      "transcription", 
      "sgRNAs", 
      "sgRNA", 
      "exons", 
      "genes", 
      "RNA", 
      "factor IX", 
      "technology", 
      "hemophilia B", 
      "lines", 
      "deletion", 
      "layer", 
      "bleeding disorder", 
      "expression", 
      "puromycin", 
      "pathogenesis", 
      "inhibitors", 
      "fluorescence", 
      "translation", 
      "ability", 
      "humans", 
      "levels", 
      "insertion", 
      "new approach", 
      "vector", 
      "current study", 
      "deficiency", 
      "IX", 
      "function", 
      "system", 
      "development", 
      "potential", 
      "effect", 
      "study", 
      "generation", 
      "addition", 
      "treatment", 
      "immunoreactivity", 
      "types", 
      "hemophilia", 
      "characteristics", 
      "lack", 
      "significant barriers", 
      "disorders", 
      "approach", 
      "factor inhibitors", 
      "model", 
      "barriers", 
      "therapy", 
      "replacement therapy", 
      "coagulation factor inhibitors", 
      "factor replacement therapy", 
      "cases", 
      "clinical cases", 
      "coagulation factor replacement therapy", 
      "standard treatment"
    ], 
    "name": "Generation of an mESC model with a human hemophilia B nonsense mutation via CRISPR/Cas9 technology", 
    "pagination": "353", 
    "productId": [
      {
        "name": "dimensions_id", 
        "type": "PropertyValue", 
        "value": [
          "pub.1149784456"
        ]
      }, 
      {
        "name": "doi", 
        "type": "PropertyValue", 
        "value": [
          "10.1186/s13287-022-03036-2"
        ]
      }, 
      {
        "name": "pubmed_id", 
        "type": "PropertyValue", 
        "value": [
          "35883203"
        ]
      }
    ], 
    "sameAs": [
      "https://doi.org/10.1186/s13287-022-03036-2", 
      "https://app.dimensions.ai/details/publication/pub.1149784456"
    ], 
    "sdDataset": "articles", 
    "sdDatePublished": "2022-11-24T21:07", 
    "sdLicense": "https://scigraph.springernature.com/explorer/license/", 
    "sdPublisher": {
      "name": "Springer Nature - SN SciGraph project", 
      "type": "Organization"
    }, 
    "sdSource": "s3://com-springernature-scigraph/baseset/20221124/entities/gbq_results/article/article_937.jsonl", 
    "type": "ScholarlyArticle", 
    "url": "https://doi.org/10.1186/s13287-022-03036-2"
  }
]
 

Download the RDF metadata as:  json-ld nt turtle xml License info

HOW TO GET THIS DATA PROGRAMMATICALLY:

JSON-LD is a popular format for linked data which is fully compatible with JSON.

curl -H 'Accept: application/ld+json' 'https://scigraph.springernature.com/pub.10.1186/s13287-022-03036-2'

N-Triples is a line-based linked data format ideal for batch operations.

curl -H 'Accept: application/n-triples' 'https://scigraph.springernature.com/pub.10.1186/s13287-022-03036-2'

Turtle is a human-readable linked data format.

curl -H 'Accept: text/turtle' 'https://scigraph.springernature.com/pub.10.1186/s13287-022-03036-2'

RDF/XML is a standard XML format for linked data.

curl -H 'Accept: application/rdf+xml' 'https://scigraph.springernature.com/pub.10.1186/s13287-022-03036-2'


 

This table displays all metadata directly associated to this object as RDF triples.

304 TRIPLES      21 PREDICATES      145 URIs      125 LITERALS      18 BLANK NODES

Subject Predicate Object
1 sg:pub.10.1186/s13287-022-03036-2 schema:about N132d344946f34c1b82c91009e0e6406e
2 N17b305c7c33e4e3096e314a813ecd3cc
3 N2300e08f063745ed8d257ad87188c289
4 N375e5dfb35134e35833e016b16992105
5 N48a606ff0b174c25a14af2882e91c629
6 N538c9f81203f4170b8421ab7527d4f30
7 N62be3dd6d0a34ac09bc1acd756a847ec
8 Nccbdb88fb0154f89b15c4a9f6f6d5c10
9 Nce6ee4db145b4b0eb684e4ddec883fbd
10 Ndee2152c52954cc48342e514f9c53496
11 Ne425a7d1216e4d778ad2f4beb8826f15
12 anzsrc-for:06
13 anzsrc-for:0601
14 anzsrc-for:0604
15 anzsrc-for:10
16 anzsrc-for:1004
17 schema:author N02018ed1e6ae4c74978b7bdbfefcc699
18 schema:citation sg:pub.10.1007/978-1-0716-0290-4_19
19 sg:pub.10.1007/s11427-006-0259-3
20 sg:pub.10.1038/aps.2010.100
21 sg:pub.10.1038/nbt.3437
22 sg:pub.10.1038/nmeth.2649
23 sg:pub.10.1038/nmeth.4293
24 sg:pub.10.1038/nsmb.1550
25 sg:pub.10.1038/s41422-020-0293-x
26 sg:pub.10.1038/s41572-021-00278-x
27 schema:datePublished 2022-07-26
28 schema:datePublishedReg 2022-07-26
29 schema:description BackgroundHemophilia B is a rare inherited genetic bleeding disorder caused by a deficiency or lack of coagulation factor IX, the gene for which (F9) is located on the X chromosome. Hemophilia B is currently incurable and the standard treatment is coagulation factor replacement therapy. Although gene therapy has the potential to cure hemophilia, significant barriers are still needed to be overcome, e.g., off-target effects and immunoreactivity, so new approaches must be explored. Nonsense mutations account for 8% of all the hemophilia B mutation types and can result in the development of coagulation factor inhibitors. In this study, CRISPR/Cas9 technology was used to construct a mouse embryonic stem cell model with a hemophilia B nonsense mutation (F9 c.223C > T) in humans to investigate the pathogenesis and treatment of nonsense mutations in hemophilia B.MethodsFirst, a donor plasmid with a mutation (F9 c.223 C > T) and sgRNAs were constructed. Second, both the donor plasmid and the px330-sgRNA were electroporated into mouse embryonic stem cell, and the mutant cells were then screened using puromycin and red fluorescence. Third, the mutant cell lines were tested for pluripotency and the ability to differentiate into three layers. Finally, the effect of mutation on gene function was studied in the differentiation system.ResultsThe mutant vector and effective sgRNA were constructed, and the mutant cell line was screened. This mutant cell line exhibited pluripotency and the ability to differentiate into three layers. This point mutation affects F9 expression at both the RNA and protein levels in the differentiation system.ConclusionsThe mutant cell line obtained in the current study had a single-base mutation rather than a base deletion or insertion in the exon, which is more similar to clinical cases. In addition, the mutant has the characteristics of mouse embryonic stem cells, and this point mutation affects F9 gene transcription and translation, which can be used as a disease model for studying the pathogenesis and treatment of hemophilia at the stem cell level.
30 schema:genre article
31 schema:isAccessibleForFree true
32 schema:isPartOf N9ef081dff58e4fab973c776fda931d9a
33 Na866cc33277b4dd1af0f406b37953ded
34 sg:journal.1043222
35 schema:keywords CRISPR/
36 CRISPR/Cas9 technology
37 Cas9 technology
38 IX
39 RNA
40 X chromosome
41 ability
42 addition
43 approach
44 barriers
45 base deletion
46 bleeding disorder
47 cases
48 cell level
49 cell lines
50 cell model
51 cells
52 characteristics
53 chromosomes
54 clinical cases
55 coagulation factor IX
56 coagulation factor inhibitors
57 coagulation factor replacement therapy
58 current study
59 deficiency
60 deletion
61 development
62 differentiation system
63 disease models
64 disorders
65 donor plasmid
66 effect
67 effects of mutations
68 embryonic stem cell model
69 embryonic stem cells
70 exons
71 expression
72 factor IX
73 factor inhibitors
74 factor replacement therapy
75 fluorescence
76 function
77 gene function
78 gene therapy
79 gene transcription
80 generation
81 genes
82 genetic bleeding disorder
83 hemophilia
84 hemophilia B
85 humans
86 immunoreactivity
87 inhibitors
88 insertion
89 lack
90 layer
91 levels
92 lines
93 model
94 mouse embryonic stem cell model
95 mouse embryonic stem cells
96 mutant cell lines
97 mutant cells
98 mutant vector
99 mutants
100 mutation type
101 mutations
102 new approach
103 nonsense mutation
104 off-target effects
105 pathogenesis
106 plasmid
107 pluripotency
108 point mutations
109 potential
110 protein levels
111 puromycin
112 red fluorescence
113 replacement therapy
114 sgRNA
115 sgRNAs
116 significant barriers
117 single base mutation
118 standard treatment
119 stem cell level
120 stem cell model
121 stem cells
122 study
123 system
124 technology
125 therapy
126 transcription
127 translation
128 treatment
129 treatment of hemophilia
130 types
131 vector
132 schema:name Generation of an mESC model with a human hemophilia B nonsense mutation via CRISPR/Cas9 technology
133 schema:pagination 353
134 schema:productId N1abd54cf223942a1b5099de1e799a11e
135 N4ac245d99e6541f68f2c8fb352ae334f
136 Nfeed68a6cc4d43188b82a7c2d38744de
137 schema:sameAs https://app.dimensions.ai/details/publication/pub.1149784456
138 https://doi.org/10.1186/s13287-022-03036-2
139 schema:sdDatePublished 2022-11-24T21:07
140 schema:sdLicense https://scigraph.springernature.com/explorer/license/
141 schema:sdPublisher N027141ce1f904e458ef718f2e90ccb3a
142 schema:url https://doi.org/10.1186/s13287-022-03036-2
143 sgo:license sg:explorer/license/
144 sgo:sdDataset articles
145 rdf:type schema:ScholarlyArticle
146 N02018ed1e6ae4c74978b7bdbfefcc699 rdf:first sg:person.014302567052.81
147 rdf:rest Nadb66a68ba0744a5a19b0f291b8db1ec
148 N027141ce1f904e458ef718f2e90ccb3a schema:name Springer Nature - SN SciGraph project
149 rdf:type schema:Organization
150 N132d344946f34c1b82c91009e0e6406e schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
151 schema:name Hemophilia A
152 rdf:type schema:DefinedTerm
153 N17b305c7c33e4e3096e314a813ecd3cc schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
154 schema:name Technology
155 rdf:type schema:DefinedTerm
156 N1abd54cf223942a1b5099de1e799a11e schema:name pubmed_id
157 schema:value 35883203
158 rdf:type schema:PropertyValue
159 N2300e08f063745ed8d257ad87188c289 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
160 schema:name Mouse Embryonic Stem Cells
161 rdf:type schema:DefinedTerm
162 N375e5dfb35134e35833e016b16992105 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
163 schema:name Hemophilia B
164 rdf:type schema:DefinedTerm
165 N381b24fe3f3544ebac858e5783be4c51 rdf:first sg:person.0674432642.86
166 rdf:rest Ndc2e838ddc0047e38392807357703c28
167 N46b624642fc4421782fcb353ce35ee36 schema:affiliation grid-institutes:grid.163032.5
168 schema:familyName Wu
169 schema:givenName Changxin
170 rdf:type schema:Person
171 N48a606ff0b174c25a14af2882e91c629 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
172 schema:name Codon, Nonsense
173 rdf:type schema:DefinedTerm
174 N4ac245d99e6541f68f2c8fb352ae334f schema:name doi
175 schema:value 10.1186/s13287-022-03036-2
176 rdf:type schema:PropertyValue
177 N538c9f81203f4170b8421ab7527d4f30 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
178 schema:name CRISPR-Cas Systems
179 rdf:type schema:DefinedTerm
180 N5e10f79e31af4191bf02fa9592b9c355 rdf:first sg:person.016707766572.19
181 rdf:rest Nfa3edf0f11a449369309a5d5cc442803
182 N62be3dd6d0a34ac09bc1acd756a847ec schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
183 schema:name Mice
184 rdf:type schema:DefinedTerm
185 N7683368396ee4604a89826a4fe951374 rdf:first N46b624642fc4421782fcb353ce35ee36
186 rdf:rest Nbf2e9cef16934066b19d8885de78b532
187 N9ef081dff58e4fab973c776fda931d9a schema:issueNumber 1
188 rdf:type schema:PublicationIssue
189 Na866cc33277b4dd1af0f406b37953ded schema:volumeNumber 13
190 rdf:type schema:PublicationVolume
191 Nadb66a68ba0744a5a19b0f291b8db1ec rdf:first sg:person.012112245452.48
192 rdf:rest N5e10f79e31af4191bf02fa9592b9c355
193 Nbf2e9cef16934066b19d8885de78b532 rdf:first sg:person.012652371361.71
194 rdf:rest N381b24fe3f3544ebac858e5783be4c51
195 Nccbdb88fb0154f89b15c4a9f6f6d5c10 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
196 schema:name Humans
197 rdf:type schema:DefinedTerm
198 Nce6ee4db145b4b0eb684e4ddec883fbd schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
199 schema:name Animals
200 rdf:type schema:DefinedTerm
201 Ndc2e838ddc0047e38392807357703c28 rdf:first sg:person.01205734576.79
202 rdf:rest rdf:nil
203 Ndee2152c52954cc48342e514f9c53496 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
204 schema:name Mutation
205 rdf:type schema:DefinedTerm
206 Ne425a7d1216e4d778ad2f4beb8826f15 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
207 schema:name Factor IX
208 rdf:type schema:DefinedTerm
209 Nfa3edf0f11a449369309a5d5cc442803 rdf:first sg:person.01346154231.22
210 rdf:rest N7683368396ee4604a89826a4fe951374
211 Nfeed68a6cc4d43188b82a7c2d38744de schema:name dimensions_id
212 schema:value pub.1149784456
213 rdf:type schema:PropertyValue
214 anzsrc-for:06 schema:inDefinedTermSet anzsrc-for:
215 schema:name Biological Sciences
216 rdf:type schema:DefinedTerm
217 anzsrc-for:0601 schema:inDefinedTermSet anzsrc-for:
218 schema:name Biochemistry and Cell Biology
219 rdf:type schema:DefinedTerm
220 anzsrc-for:0604 schema:inDefinedTermSet anzsrc-for:
221 schema:name Genetics
222 rdf:type schema:DefinedTerm
223 anzsrc-for:10 schema:inDefinedTermSet anzsrc-for:
224 schema:name Technology
225 rdf:type schema:DefinedTerm
226 anzsrc-for:1004 schema:inDefinedTermSet anzsrc-for:
227 schema:name Medical Biotechnology
228 rdf:type schema:DefinedTerm
229 sg:grant.8362475 http://pending.schema.org/fundedItem sg:pub.10.1186/s13287-022-03036-2
230 rdf:type schema:MonetaryGrant
231 sg:grant.8886764 http://pending.schema.org/fundedItem sg:pub.10.1186/s13287-022-03036-2
232 rdf:type schema:MonetaryGrant
233 sg:journal.1043222 schema:issn 1757-6512
234 schema:name Stem Cell Research & Therapy
235 schema:publisher Springer Nature
236 rdf:type schema:Periodical
237 sg:person.01205734576.79 schema:affiliation grid-institutes:grid.452845.a
238 schema:familyName Wang
239 schema:givenName Gang
240 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01205734576.79
241 rdf:type schema:Person
242 sg:person.012112245452.48 schema:affiliation grid-institutes:grid.452845.a
243 schema:familyName Sun
244 schema:givenName Wenwen
245 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.012112245452.48
246 rdf:type schema:Person
247 sg:person.012652371361.71 schema:affiliation grid-institutes:grid.163032.5
248 schema:familyName Su
249 schema:givenName Pengfei
250 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.012652371361.71
251 rdf:type schema:Person
252 sg:person.01346154231.22 schema:affiliation grid-institutes:grid.163032.5
253 schema:familyName Yao
254 schema:givenName Mingze
255 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01346154231.22
256 rdf:type schema:Person
257 sg:person.014302567052.81 schema:affiliation grid-institutes:grid.452845.a
258 schema:familyName Ma
259 schema:givenName Yanchun
260 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.014302567052.81
261 rdf:type schema:Person
262 sg:person.016707766572.19 schema:affiliation grid-institutes:grid.452845.a
263 schema:familyName Zhao
264 schema:givenName Lidong
265 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.016707766572.19
266 rdf:type schema:Person
267 sg:person.0674432642.86 schema:affiliation grid-institutes:grid.452845.a
268 schema:familyName Yang
269 schema:givenName Linhua
270 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0674432642.86
271 rdf:type schema:Person
272 sg:pub.10.1007/978-1-0716-0290-4_19 schema:sameAs https://app.dimensions.ai/details/publication/pub.1124458296
273 https://doi.org/10.1007/978-1-0716-0290-4_19
274 rdf:type schema:CreativeWork
275 sg:pub.10.1007/s11427-006-0259-3 schema:sameAs https://app.dimensions.ai/details/publication/pub.1036267125
276 https://doi.org/10.1007/s11427-006-0259-3
277 rdf:type schema:CreativeWork
278 sg:pub.10.1038/aps.2010.100 schema:sameAs https://app.dimensions.ai/details/publication/pub.1003210223
279 https://doi.org/10.1038/aps.2010.100
280 rdf:type schema:CreativeWork
281 sg:pub.10.1038/nbt.3437 schema:sameAs https://app.dimensions.ai/details/publication/pub.1014083513
282 https://doi.org/10.1038/nbt.3437
283 rdf:type schema:CreativeWork
284 sg:pub.10.1038/nmeth.2649 schema:sameAs https://app.dimensions.ai/details/publication/pub.1008703730
285 https://doi.org/10.1038/nmeth.2649
286 rdf:type schema:CreativeWork
287 sg:pub.10.1038/nmeth.4293 schema:sameAs https://app.dimensions.ai/details/publication/pub.1085714811
288 https://doi.org/10.1038/nmeth.4293
289 rdf:type schema:CreativeWork
290 sg:pub.10.1038/nsmb.1550 schema:sameAs https://app.dimensions.ai/details/publication/pub.1005363300
291 https://doi.org/10.1038/nsmb.1550
292 rdf:type schema:CreativeWork
293 sg:pub.10.1038/s41422-020-0293-x schema:sameAs https://app.dimensions.ai/details/publication/pub.1125493212
294 https://doi.org/10.1038/s41422-020-0293-x
295 rdf:type schema:CreativeWork
296 sg:pub.10.1038/s41572-021-00278-x schema:sameAs https://app.dimensions.ai/details/publication/pub.1139119205
297 https://doi.org/10.1038/s41572-021-00278-x
298 rdf:type schema:CreativeWork
299 grid-institutes:grid.163032.5 schema:alternateName Institutes of Biomedical Sciences, Shanxi University, 030006, Taiyuan, Shanxi Province, China
300 schema:name Institutes of Biomedical Sciences, Shanxi University, 030006, Taiyuan, Shanxi Province, China
301 rdf:type schema:Organization
302 grid-institutes:grid.452845.a schema:alternateName Department of Hematology, The Second Hospital of Shanxi Medical University, 030001, Taiyuan, Shanxi Province, China
303 schema:name Department of Hematology, The Second Hospital of Shanxi Medical University, 030001, Taiyuan, Shanxi Province, China
304 rdf:type schema:Organization
 




Preview window. Press ESC to close (or click here)


...