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)

Aoife Gowran, Gabriella Spaltro, Federica Casalnuovo, Vera Vigorelli, Pietro Spinelli, Elisa Castiglioni, Davide Rovina, Stefania Paganini, Marina Di Segni, Cristina Gervasini, Patrizia Nigro, Giulio Pompilio

Research output: Contribution to journalArticle

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).

Original languageEnglish
Pages (from-to)21-24
Number of pages4
JournalStem Cell Research
Volume28
DOIs
Publication statusPublished - Apr 2018

Keywords

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

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