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


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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

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

DOI

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

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

PUBMED

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


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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
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