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

1 Citation (Scopus)

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 1 2018

Fingerprint

Induced Pluripotent Stem Cells
Dystrophin
Duchenne Muscular Dystrophy
Exons
Genes
Mutation
Protein Isoforms
Plasmids
Fibroblasts
Chromosomes
Cell Line
Skin
DNA

ASJC Scopus subject areas

  • Developmental Biology
  • Cell Biology

Cite this

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

In: Stem Cell Research, Vol. 28, 01.04.2018, p. 21-24.

Research output: Contribution to journalArticle

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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).",
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AU - Spaltro, Gabriella

AU - Casalnuovo, Federica

AU - Vigorelli, Vera

AU - Spinelli, Pietro

AU - Castiglioni, Elisa

AU - Rovina, Davide

AU - Paganini, Stefania

AU - Di Segni, Marina

AU - Gervasini, Cristina

AU - Nigro, Patrizia

AU - Pompilio, Giulio

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