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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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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
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author 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
author_facet 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
author_sort Rovina, Davide
collection PubMed
description 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.
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spelling pubmed-72647072020-06-05 Generation of the Becker muscular dystrophy patient derived induced pluripotent stem cell line carrying the DMD splicing mutation c.1705-8 T>C. 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 Stem Cell Res Article 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. Elsevier 2020-05 /pmc/articles/PMC7264707/ /pubmed/32348941 http://dx.doi.org/10.1016/j.scr.2020.101819 Text en © 2020 The Authors http://creativecommons.org/licenses/by-nc-nd/4.0/ This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/).
spellingShingle Article
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
Generation of the Becker muscular dystrophy patient derived induced pluripotent stem cell line carrying the DMD splicing mutation c.1705-8 T>C.
title Generation of the Becker muscular dystrophy patient derived induced pluripotent stem cell line carrying the DMD splicing mutation c.1705-8 T>C.
title_full Generation of the Becker muscular dystrophy patient derived induced pluripotent stem cell line carrying the DMD splicing mutation c.1705-8 T>C.
title_fullStr Generation of the Becker muscular dystrophy patient derived induced pluripotent stem cell line carrying the DMD splicing mutation c.1705-8 T>C.
title_full_unstemmed Generation of the Becker muscular dystrophy patient derived induced pluripotent stem cell line carrying the DMD splicing mutation c.1705-8 T>C.
title_short Generation of the Becker muscular dystrophy patient derived induced pluripotent stem cell line carrying the DMD splicing mutation c.1705-8 T>C.
title_sort generation of the becker muscular dystrophy patient derived induced pluripotent stem cell line carrying the dmd splicing mutation c.1705-8 t>c.
topic Article
url 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
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