Stem Cell Research
Stem Cell Research
5 years ago

Derivation of the Duchenne muscular dystrophy patient-derived induced pluripotent stem cell line lacking DMD exons 49 and 50 (CCMi001DMD-A-3, ∆49, ∆50).

Aoife Gowran, Pietro Spinelli, Federica Casalnuovo, Vera Vigorelli, Stefania Paganini, Davide Rovina, Giulio Pompilio, Elisa Castiglioni, Patrizia Nigro, Cristina Gervasini, Marina Di Segni, Gabriella Spaltro
Duchenne muscular dystrophy (DMD) is caused by abnormalities in the dystrophin gene and is clinically characterised by childhood muscle degeneration and cardiomyopathy. We produced an induced pluripotent stem cell line from a DMD patient's dermal fibroblasts by electroporation with episomal vectors containing: hL-MYC, hLIN28, hSOX2, hKLF4, hOCT3/4. The resultant DMD iPSC line (CCMi001DMD-A-3) displayed iPSC morphology, expressed pluripotency markers, possessed trilineage differentiation potential and was karyotypically normal. MLPA analyses performed on DNA extracted from CCMi001DMD-A-3 showed a deletion of exons 49 and 50 (CCMi001DMD-A-3, ∆49, ∆50).

Publisher URL: http://doi.org/10.1016/j.scr.2017.10.018

DOI: 10.1016/j.scr.2017.10.018

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