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 Research

12 February Feb 2018 8 months ago
  • Gowran A, Spaltro G, Casalnuovo F, Vigorelli V, Castiglioni E, Rovina D, Nigro P, Pompilio G

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).

Reference
Gowran A, Spaltro G, Casalnuovo F, Vigorelli V, Spinelli P, Castiglioni E, Rovina D, Paganini S, Di Segni M, Gervasini C, Nigro P, Pompilio G. 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 Feb 1;28:21-24

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