Establishment of a Duchenne muscular dystrophy patient-derived induced pluripotent stem cell line carrying a deletion of exons 51-53 of the dystrophin gene (CCMi003-A)

Summary

Duchenne's muscular dystrophy (DMD) is a neuromuscular disorder affecting skeletal and cardiac muscle function, caused by mutations in the dystrophin (DMD) gene. Dermal fibroblasts, isolated from a DMD patient with a reported deletion of exons 51 to 53 in the DMD gene, were reprogrammed into induced pluripotent stem cells (iPSCs) by electroporation with episomal vectors containing the reprogramming factors: OCT4, SOX2, LIN28, KLF4, and L-MYC. The obtained iPSC line showed iPSC morphology, expression of pluripotency markers, possessed trilineage differentiation potential and was karyotypically normal. Copyright © 2019 The Authors. Published by Elsevier B.V. All rights reserved.

Authors Rovina D, Castiglioni E, Farini A, Bellichi M, Gervasini C, Paganini S, Di Segni M, Santoro R, Torrente Y, Pompilio G, Gowran A
Journal Stem cell research
Publication Date 2019 Aug 20;40:101544
PubMed 31465894
DOI 10.1016/j.scr.2019.101544

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