Generation of induced pluripotent stem cells from a Becker muscular dystrophy patient carrying a deletion of exons 45-55 of the dystrophin gene (CCMi002BMD-A-9 ∆45-55)

Stem Cell Res. 2018 Apr:28:21-24. doi: 10.1016/j.scr.2018.01.025. Epub 2018 Feb 2.

Abstract

Becker muscular dystrophy (BMD) is a dystrophinopathy caused by mutations in the dystrophin gene on chromosome Xp21. BMD mutations result in truncated semi-functional dystrophin isoforms. Consequently, less severe clinical symptoms become apparent later in life compared to Duchenne muscular dystrophy. Dermal fibroblasts from a BMD patient were electroporated with episomal plasmids containing reprogramming factors to create the induced pluripotent stem cell line: CCMi002BMD-A-9 that showed pluripotent markers, were karyotypically normal and capable of trilineage differentiation. MLPA analyses performed on DNA extracted from CCMi002BMD-A-9 showed an in-frame deletion of exons 45 to 55 (CCMi002BMD-A-9 Δ45-55).

MeSH terms

  • Adult
  • Cell Culture Techniques / methods*
  • Dystrophin / genetics*
  • Exons / genetics*
  • Humans
  • Induced Pluripotent Stem Cells / metabolism*
  • Male
  • Muscular Dystrophy, Duchenne / genetics*
  • Muscular Dystrophy, Duchenne / pathology*
  • Sequence Deletion / genetics*

Substances

  • Dystrophin