4.2 Article

Generation of Duchenne muscular dystrophy patient-specific induced pluripotent stem cell line lacking exons 45-50 of the dystrophin gene (IITi001-A)

Journal

STEM CELL RESEARCH
Volume 29, Issue -, Pages 111-114

Publisher

ELSEVIER
DOI: 10.1016/j.scr.2018.03.023

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Funding

  1. NIAMS NIH HHS [R01 AR068428] Funding Source: Medline

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Duchenne muscular dystrophy (DMD) is an X-linked progressive muscle degenerative disease caused by mutations in the dystrophin gene. We generated induced pluripotent stem cells (iPSCs) from a 13-year-old male patient carrying a deletion mutation of exons 45-50; iPSCs were subsequently differentiated into cardiomyocytes. iPSCs exhibit expression of the pluripotent markers (SOX2, NANOG, OCT4), differentiation capacity into the three germ layers, normal karyotype, genetic identity to the skin biopsy dermal fibroblasts and the patient-specific dystrophin mutation. (C) 2018 The Authors. Published by Elsevier B.V.

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