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)

Stem Cell Res

14 October Oct 2022 one month ago
  • Rovina D, Castiglioni E, Mallia S, Rabino M, Di Giuseppe G, Pompilio G.

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.

Reference: 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). Rovina D, Castiglioni E, Mallia S, Rabino M, Farini A, Belicchi M, Di Giuseppe G, Gervasini C, Torrente Y, Pompilio G, Gowran A. Stem Cell Res. 2022 Aug 5;64:102889.

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