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Article

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

Stem cell research - 1 May 2020

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

Abstract excerpt

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...

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Identifiers

PMID: 32348941
DOI: 10.1016/j.scr.2020.101819
PMCID: PMC7264707

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