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 | |
| Publication status | Published - Apr 1 2018 |
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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 journal › Article
}
TY - JOUR
T1 - 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)
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
Y1 - 2018/4/1
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).
UR - http://www.scopus.com/inward/record.url?scp=85041577553&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=85041577553&partnerID=8YFLogxK
U2 - 10.1016/j.scr.2018.01.025
DO - 10.1016/j.scr.2018.01.025
M3 - Article
AN - SCOPUS:85041577553
VL - 28
SP - 21
EP - 24
JO - Stem Cell Research
JF - Stem Cell Research
SN - 1873-5061
ER -