Derivation of the Duchenne muscular dystrophy patient-derived induced pluripotent stem cell line lacking DMD exons 49 and 50 (CCMi001DMD-A-3, ∆49, ∆50)


Duchenne muscular dystrophy (DMD) is caused by abnormalities in the dystrophin gene and is clinically characterised by childhood muscle degeneration and cardiomyopathy. We produced an induced pluripotent stem cell line from a DMD patient's dermal fibroblasts by electroporation with episomal vectors containing: hL-MYC, hLIN28, hSOX2, hKLF4, hOCT3/4. The resultant DMD iPSC line (CCMi001DMD-A-3) displayed iPSC morphology, expressed pluripotency markers, possessed trilineage differentiation potential and was karyotypically normal. MLPA analyses performed on DNA extracted from CCMi001DMD-A-3 showed a deletion of exons 49 and 50 (CCMi001DMD-A-3, ∆49, ∆50). Copyright © 2017 The Authors. Published by Elsevier B.V. All rights reserved.

Authors Spaltro G, Vigorelli V, Casalnuovo F, Spinelli P, Castiglioni E, Rovina D, Paganini S, Di Segni M, Nigro P, Gervasini C, Pompilio G, Gowran A
Journal Stem cell research
Publication Date 2017 Dec;25:128-131
PubMed 29127875
DOI 10.1016/j.scr.2017.10.018

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