| Autor: |
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 |
| Jazyk: |
angličtina |
| Rok vydání: |
2018 |
| Předmět: |
|
| Zdroj: |
Stem Cell Research, Vol 28, Iss , Pp 21-24 (2018) |
| Druh dokumentu: |
article |
| ISSN: |
1873-5061 |
| DOI: |
10.1016/j.scr.2018.01.025 |
| Popis: |
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). |
| Databáze: |
Directory of Open Access Journals |
| Externí odkaz: |
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