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)
Summary
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). Copyright © 2018 The Author(s). Published by Elsevier B.V. All rights reserved.
| Authors | 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 |
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| Journal | Stem cell research |
| Publication Date | 2018 Apr;28:21-24 |
| PubMed | 29414413 |
| DOI | 10.1016/j.scr.2018.01.025 |