Reprogramming of dermal fibroblasts from a Duchenne muscular dystrophy patient carrying a deletion of exons 45-50 into an induced pluripotent stem cell line (CCMi005-A)


Duchenne muscular dystrophy (DMD) is an X-linked syndrome that affects skeletal and cardiac muscle and is caused by mutation of the dystrophin gene. Induced pluripotent stem cells (iPSCs) were generated from dermal fibroblasts by electroporation with episomal vectors containing the reprogramming factors (OCT4, SOX2, LIN28, KLF4, and l-MYC). The donor carried an out-of-frame deletion of exons 45-50 of the dystrophin gene. The established iPSC line exhibited normal morphology, expressed pluripotency markers, had normal karyotype and possessed trilineage differentiation potential. Copyright © 2022 The Author(s). Published by Elsevier B.V. All rights reserved.

Authors Rovina D, Castiglioni E, Mallia S, Rabino M, Farini A, Belicchi M, Di Giuseppe G, Gervasini C, Torrente Y, Pompilio G, Gowran A
Journal Stem cell research
Publication Date 2022 Aug 5;64:102889
PubMed 35961103
DOI 10.1016/j.scr.2022.102889

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