Generation of Duchenne muscular dystrophy patient-specific induced pluripotent stem cell line lacking exons 45-50 of the dystrophin gene (IITi001-A)

Stem Cell Res. 2018 May;29:111-114. doi: 10.1016/j.scr.2018.03.023. Epub 2018 Apr 3.

Abstract

Duchenne muscular dystrophy (DMD) is an X-linked progressive muscle degenerative disease caused by mutations in the dystrophin gene. We generated induced pluripotent stem cells (iPSCs) from a 13-year-old male patient carrying a deletion mutation of exons 45-50; iPSCs were subsequently differentiated into cardiomyocytes. iPSCs exhibit expression of the pluripotent markers (SOX2, NANOG, OCT4), differentiation capacity into the three germ layers, normal karyotype, genetic identity to the skin biopsy dermal fibroblasts and the patient-specific dystrophin mutation.

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Cell Differentiation / physiology
  • Dystrophin / genetics*
  • Exons
  • Genotype
  • Humans
  • Induced Pluripotent Stem Cells / cytology*
  • Male
  • Muscular Dystrophy, Duchenne / genetics
  • Muscular Dystrophy, Duchenne / pathology*

Substances

  • Dystrophin