Generation of three Duchenne Muscular Dystrophy patient-specific induced pluripotent stem cell lines DMD_YoTaz_PhyMedEXp, DMD_RaPer_PhyMedEXp, DMD_OuMen_PhyMedEXp (INSRMi008-A, INSRMi009-A and INSRMi010-A)

Stem Cell Res. 2020 Dec:49:102094. doi: 10.1016/j.scr.2020.102094. Epub 2020 Nov 19.

Abstract

Duchenne Muscular Dystrophy (DMD) is a X-linked degenerative pathology with a prevalence of 1/3600-6000 boys due to the absence of functional dystrophin in muscles. This muscular disease leads to skeletal muscle damages, respiratory failure and in the later stages dilated cardiomyopathy (DCM) leading to heart failure. We generated iPSC lines from three different DMD patients carrying respectively deletions of exons 1, 52 and 55 in the dystrophin gene. The reprogrammed iPSC lines showed expression of pluripotent markers, capacity to differentiate in trilineage embryonic layers and a normal karyotype.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Cell Line*
  • Dystrophin / genetics
  • Exons
  • Humans
  • Induced Pluripotent Stem Cells*
  • Male
  • Muscles
  • Muscular Dystrophy, Duchenne* / genetics

Substances

  • Dystrophin