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Generation of the Becker muscular dystrophy patient derived induced pluripotent stem cell line carrying the DMD splicing mutation c.1705-8 T>C.

Becker Muscular dystrophy (BMD) is an X-linked syndrome characterized by progressive muscle weakness. BMD is generally less severe than Duchenne Muscular Dystrophy. BMD is caused by mutations in the dystrophin gene that normally give rise to the production of a truncated but partially functional dys...

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Detalles Bibliográficos
Autores principales: Rovina, Davide, Castiglioni, Elisa, Niro, Francesco, Farini, Andrea, Belicchi, Marzia, Di Fede, Elisabetta, Gervasini, Cristina, Paganini, Stefania, Di Segni, Marina, Torrente, Yvan, Santoro, Rosaria, Pompilio, Giulio, Gowran, Aoife
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7264707/
https://www.ncbi.nlm.nih.gov/pubmed/32348941
http://dx.doi.org/10.1016/j.scr.2020.101819
Descripción
Sumario:Becker Muscular dystrophy (BMD) is an X-linked syndrome characterized by progressive muscle weakness. BMD is generally less severe than Duchenne Muscular Dystrophy. BMD is caused by mutations in the dystrophin gene that normally give rise to the production of a truncated but partially functional dystrophin protein. We generated an induced pluripotent cell line from dermal fibroblasts of a BMD patient carrying a splice mutation in the dystrophin gene (c.1705-8 T>C). The iPSC cell-line displayed the characteristic pluripotent-like morphology, expressed pluripotency markers, differentiated into cells of the three germ layers and had a normal karyotype.