Generation and characterization of an induced pluripotent stem cell line (FJMUNi001-A) from a patient with Duchenne muscular dystrophy carrying c.4518 + 512 T > A variant in the DMD gene

Stem Cell Res. 2022 Apr:60:102718. doi: 10.1016/j.scr.2022.102718. Epub 2022 Feb 24.

Abstract

Duchenne muscular dystrophy (DMD) is an X-linked recessive degenerative disease characterized by progressive weakness of limbs. In this study, we generated an induced pluripotent stem cell line from a DMD patient's dermal fibroblasts with non-integrating Sendai virus. The patient carried a rare c.4518 + 512 T > A variant in the DMD gene. This iPSC line displayed normal iPSC morphology, karyotypes and pluripotency expression markers, and also can be differentiated into the three germ layers.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Cell Differentiation
  • Dystrophin / genetics
  • Dystrophin / metabolism
  • Exons
  • Humans
  • Induced Pluripotent Stem Cells* / metabolism
  • Muscular Dystrophy, Duchenne* / genetics
  • Muscular Dystrophy, Duchenne* / metabolism

Substances

  • Dystrophin