Generation of induced pluripotent stem cells from a Becker muscular dystrophy patient carrying a deletion of exons 45-55 of the dystrophin gene (CCMi002BMD-A-9 ∆45-55)
Becker muscular dystrophy (BMD) is a dystrophinopathy caused by mutations in the dystrophin gene on chromosome Xp21. BMD mutations result in truncated semi-functional dystrophin isoforms. Consequently, less severe clinical symptoms become apparent later in life compared to Duchenne muscular dystroph...
| Main Authors: | , , , , , , , , , , , |
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| Format: | Article |
| Language: | English |
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Elsevier
2018-04-01
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| Series: | Stem Cell Research |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S1873506118300357 |
| _version_ | 1828293664990822400 |
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| author | Aoife Gowran Gabriella Spaltro Federica Casalnuovo Vera Vigorelli Pietro Spinelli Elisa Castiglioni Davide Rovina Stefania Paganini Marina Di Segni Cristina Gervasini Patrizia Nigro Giulio Pompilio |
| author_facet | Aoife Gowran Gabriella Spaltro Federica Casalnuovo Vera Vigorelli Pietro Spinelli Elisa Castiglioni Davide Rovina Stefania Paganini Marina Di Segni Cristina Gervasini Patrizia Nigro Giulio Pompilio |
| author_sort | Aoife Gowran |
| collection | DOAJ |
| description | Becker muscular dystrophy (BMD) is a dystrophinopathy caused by mutations in the dystrophin gene on chromosome Xp21. BMD mutations result in truncated semi-functional dystrophin isoforms. Consequently, less severe clinical symptoms become apparent later in life compared to Duchenne muscular dystrophy. Dermal fibroblasts from a BMD patient were electroporated with episomal plasmids containing reprogramming factors to create the induced pluripotent stem cell line: CCMi002BMD-A-9 that showed pluripotent markers, were karyotypically normal and capable of trilineage differentiation. MLPA analyses performed on DNA extracted from CCMi002BMD-A-9 showed an in-frame deletion of exons 45 to 55 (CCMi002BMD-A-9 Δ45-55). |
| first_indexed | 2024-04-13T11:24:20Z |
| format | Article |
| id | doaj.art-5bbc5c43b5b34a5687c6f812c3ea672b |
| institution | Directory Open Access Journal |
| issn | 1873-5061 |
| language | English |
| last_indexed | 2024-04-13T11:24:20Z |
| publishDate | 2018-04-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Stem Cell Research |
| spelling | doaj.art-5bbc5c43b5b34a5687c6f812c3ea672b2022-12-22T02:48:44ZengElsevierStem Cell Research1873-50612018-04-01282124Generation of induced pluripotent stem cells from a Becker muscular dystrophy patient carrying a deletion of exons 45-55 of the dystrophin gene (CCMi002BMD-A-9 ∆45-55)Aoife Gowran0Gabriella Spaltro1Federica Casalnuovo2Vera Vigorelli3Pietro Spinelli4Elisa Castiglioni5Davide Rovina6Stefania Paganini7Marina Di Segni8Cristina Gervasini9Patrizia Nigro10Giulio Pompilio11Centro Cardiologico Monzino-IRCCS, Unit of Vascular Biology and Regenerative Medicine, Milan, Italy; Corresponding author at: Unit of Vascular Biology and Regenerative Medicine, Centro Cardiologico Monzino-IRCCS, Via Parea 4, 20138 Milan, Italy.Centro Cardiologico Monzino-IRCCS, Unit of Vascular Biology and Regenerative Medicine, Milan, ItalyCentro Cardiologico Monzino-IRCCS, Unit of Vascular Biology and Regenerative Medicine, Milan, ItalyCentro Cardiologico Monzino-IRCCS, Unit of Vascular Biology and Regenerative Medicine, Milan, ItalyDepartment of Electronics, Information and Bioengineering, Politecnico Di Milan, ItalyCentro Cardiologico Monzino-IRCCS, Unit of Vascular Biology and Regenerative Medicine, Milan, ItalyCentro Cardiologico Monzino-IRCCS, Unit of Vascular Biology and Regenerative Medicine, Milan, ItalyLaboratory of Medical Genetics, Fondazione IRCCS Ca’ Grande, Ospedale Maggiore Policlinico, Milan, ItalyLaboratory of Medical Genetics, Fondazione IRCCS Ca’ Grande, Ospedale Maggiore Policlinico, Milan, ItalyMedical Genetics, Department of Health Sciences, Università degli Studi di Milano, Milan, ItalyCentro Cardiologico Monzino-IRCCS, Unit of Vascular Biology and Regenerative Medicine, Milan, ItalyCentro Cardiologico Monzino-IRCCS, Unit of Vascular Biology and Regenerative Medicine, Milan, Italy; Department of Clinical Sciences and Community Health, University of Milan, Italy; Department of Cardiac Surgery, Centro Cardiologico Monzino IRCCS, Milan, ItalyBecker muscular dystrophy (BMD) is a dystrophinopathy caused by mutations in the dystrophin gene on chromosome Xp21. BMD mutations result in truncated semi-functional dystrophin isoforms. Consequently, less severe clinical symptoms become apparent later in life compared to Duchenne muscular dystrophy. Dermal fibroblasts from a BMD patient were electroporated with episomal plasmids containing reprogramming factors to create the induced pluripotent stem cell line: CCMi002BMD-A-9 that showed pluripotent markers, were karyotypically normal and capable of trilineage differentiation. MLPA analyses performed on DNA extracted from CCMi002BMD-A-9 showed an in-frame deletion of exons 45 to 55 (CCMi002BMD-A-9 Δ45-55).http://www.sciencedirect.com/science/article/pii/S1873506118300357 |
| spellingShingle | Aoife Gowran Gabriella Spaltro Federica Casalnuovo Vera Vigorelli Pietro Spinelli Elisa Castiglioni Davide Rovina Stefania Paganini Marina Di Segni Cristina Gervasini Patrizia Nigro Giulio Pompilio Generation of induced pluripotent stem cells from a Becker muscular dystrophy patient carrying a deletion of exons 45-55 of the dystrophin gene (CCMi002BMD-A-9 ∆45-55) Stem Cell Research |
| title | Generation of induced pluripotent stem cells from a Becker muscular dystrophy patient carrying a deletion of exons 45-55 of the dystrophin gene (CCMi002BMD-A-9 ∆45-55) |
| title_full | Generation of induced pluripotent stem cells from a Becker muscular dystrophy patient carrying a deletion of exons 45-55 of the dystrophin gene (CCMi002BMD-A-9 ∆45-55) |
| title_fullStr | Generation of induced pluripotent stem cells from a Becker muscular dystrophy patient carrying a deletion of exons 45-55 of the dystrophin gene (CCMi002BMD-A-9 ∆45-55) |
| title_full_unstemmed | Generation of induced pluripotent stem cells from a Becker muscular dystrophy patient carrying a deletion of exons 45-55 of the dystrophin gene (CCMi002BMD-A-9 ∆45-55) |
| title_short | Generation of induced pluripotent stem cells from a Becker muscular dystrophy patient carrying a deletion of exons 45-55 of the dystrophin gene (CCMi002BMD-A-9 ∆45-55) |
| title_sort | generation of induced pluripotent stem cells from a becker muscular dystrophy patient carrying a deletion of exons 45 55 of the dystrophin gene ccmi002bmd a 9 ∆45 55 |
| url | http://www.sciencedirect.com/science/article/pii/S1873506118300357 |
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