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. 2022 Oct:64:102889. doi: 10.1016/j.scr.2022.102889. Epub 2022 Aug 5.

Abstract

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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Cell Differentiation
  • Cellular Reprogramming
  • Dystrophin / genetics
  • Exons / genetics
  • Fibroblasts / metabolism
  • Humans
  • Induced Pluripotent Stem Cells* / metabolism
  • Inducible T-Cell Co-Stimulator Protein / genetics
  • Inducible T-Cell Co-Stimulator Protein / metabolism
  • Muscular Dystrophy, Duchenne* / genetics
  • Muscular Dystrophy, Duchenne* / metabolism

Substances

  • Dystrophin
  • Inducible T-Cell Co-Stimulator Protein