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)

Stem Cell Res. 2019 Oct:40:101544. doi: 10.1016/j.scr.2019.101544. Epub 2019 Aug 20.

Abstract

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 reprogramed into induced pluripotent stem cells (iPSCs) by electroporation with episomal vectors containing the reprograming 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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Cell Differentiation
  • Cell Line
  • Cellular Reprogramming
  • Dermis / cytology
  • Dystrophin / genetics*
  • Exons
  • Fibroblasts / cytology
  • Humans
  • Induced Pluripotent Stem Cells / cytology*
  • Induced Pluripotent Stem Cells / metabolism
  • Karyotype
  • Kruppel-Like Factor 4
  • Male
  • Muscular Dystrophy, Duchenne / genetics
  • Muscular Dystrophy, Duchenne / pathology*
  • Sequence Deletion
  • Transcription Factors / genetics

Substances

  • Dystrophin
  • KLF4 protein, human
  • Kruppel-Like Factor 4
  • Transcription Factors