Generation of the Becker muscular dystrophy patient derived induced pluripotent stem cell line carrying the DMD splicing mutation c.1705-8 T>C
构建携带DMD剪接突变c.1705-8 T>C的贝克尔肌营养不良症患者来源的诱导多能干细胞系
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作者:Davide Rovina ,Elisa Castiglioni ,Francesco Niro ,Andrea Farini ,Marzia Belicchi ,Elisabetta Di Fede ,Cristina Gervasini ,Stefania Paganini ,Marina Di Segni ,Yvan Torrente ,Rosaria Santoro ,Giulio Pompilio ,Aoife Gowran
| 期刊: | Stem Cell Research | 影响因子: | 0.800 |
| 时间: | 2020 | 起止号: | 2020 May:45:101819. |
| doi: | 10.1016/j.scr.2020.101819 | 方法学: | ICC |
| 研究方向: | 发育与干细胞 | 细胞类型: | 干细胞 |
Abstract
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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