Induced pluripotent stem cells from a spinal muscular atrophy patient View Full Text


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2009-01-15

AUTHORS

Allison D. Ebert, Junying Yu, Ferrill F. Rose, Virginia B. Mattis, Christian L. Lorson, James A. Thomson, Clive N. Svendsen

ABSTRACT

Spinal muscular atrophy is one of the most common inherited forms of neurological disease leading to infant mortality. Patients have selective loss of lower motor neurons resulting in muscle weakness, paralysis and often death. Although patient fibroblasts have been used extensively to study spinal muscular atrophy, motor neurons have a unique anatomy and physiology which may underlie their vulnerability to the disease process. Here we report the generation of induced pluripotent stem cells from skin fibroblast samples taken from a child with spinal muscular atrophy. These cells expanded robustly in culture, maintained the disease genotype and generated motor neurons that showed selective deficits compared to those derived from the child's unaffected mother. This is the first study to show that human induced pluripotent stem cells can be used to model the specific pathology seen in a genetically inherited disease. As such, it represents a promising resource to study disease mechanisms, screen new drug compounds and develop new therapies. More... »

PAGES

277

Journal

TITLE

Nature

ISSUE

7227

VOLUME

457

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  • Identifiers

    URI

    http://scigraph.springernature.com/pub.10.1038/nature07677

    DOI

    http://dx.doi.org/10.1038/nature07677

    DIMENSIONS

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    PUBMED

    https://www.ncbi.nlm.nih.gov/pubmed/19098894


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