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

doi:10.1016/j.scr.2018.01.025

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 journal › Article › peer-review

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 language	English
Pages (from-to)	21-24
Number of pages	4
Journal	Stem Cell Research
Volume	28
DOIs	https://doi.org/10.1016/j.scr.2018.01.025
Publication status	Published - Apr 1 2018

ASJC Scopus subject areas

Developmental Biology
Cell Biology

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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. (2018). 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, 28, 21-24. https://doi.org/10.1016/j.scr.2018.01.025

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 2018, '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, vol. 28, pp. 21-24. https://doi.org/10.1016/j.scr.2018.01.025

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title = "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)",

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).",

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

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doi = "10.1016/j.scr.2018.01.025",

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AU - Gowran, Aoife

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

PY - 2018/4/1

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N2 - 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).

AB - 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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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)

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