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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...
Autores principales: | , , , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Elsevier
2020
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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. |
format | Online Article Text |
id | pubmed-7264707 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2020 |
publisher | Elsevier |
record_format | MEDLINE/PubMed |
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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