缺失杜兴肌营养不良症基因第49和50外显子的患者来源诱导多能干细胞系（CCMi001DMD-A-3，Δ49，Δ50）的衍生
Derivation of the Duchenne muscular dystrophy patient-derived induced pluripotent stem cell line lacking DMD exons 49 and 50 (CCMi001DMD-A-3, ∆49, ∆50).
作者信息
Spaltro Gabriella, Vigorelli Vera, Casalnuovo Federica, Spinelli Pietro, Castiglioni Elisa, Rovina Davide, Paganini Stefania, Di Segni Marina, Nigro Patrizia, Gervasini Cristina, Pompilio Giulio, Gowran Aoife
机构信息
Centro Cardiologico Monzino-IRCCS, Unit of Vascular Biology and Regenerative Medicine, Milan, Italy.
Department of Electronics, Information and Bioengineering, Politecnico Di Milan, Milan, Italy.
出版信息
Stem Cell Res. 2017 Dec;25:128-131. doi: 10.1016/j.scr.2017.10.018. Epub 2017 Oct 28.
Duchenne muscular dystrophy (DMD) is caused by abnormalities in the dystrophin gene and is clinically characterised by childhood muscle degeneration and cardiomyopathy. We produced an induced pluripotent stem cell line from a DMD patient's dermal fibroblasts by electroporation with episomal vectors containing: hL-MYC, hLIN28, hSOX2, hKLF4, hOCT3/4. The resultant DMD iPSC line (CCMi001DMD-A-3) displayed iPSC morphology, expressed pluripotency markers, possessed trilineage differentiation potential and was karyotypically normal. MLPA analyses performed on DNA extracted from CCMi001DMD-A-3 showed a deletion of exons 49 and 50 (CCMi001DMD-A-3, ∆49, ∆50).
杜氏肌营养不良症（DMD）由肌营养不良蛋白基因异常引起，临床特征为儿童期肌肉变性和心肌病。我们通过用含有hL-MYC、hLIN28、hSOX2、hKLF4、hOCT3/4的附加型载体进行电穿孔，从一名DMD患者的皮肤成纤维细胞中产生了诱导多能干细胞系。所得的DMD诱导多能干细胞系（CCMi001DMD-A-3）呈现出诱导多能干细胞形态，表达多能性标志物，具有三系分化潜能，且核型正常。对从CCMi001DMD-A-3提取的DNA进行的多重连接依赖探针扩增（MLPA）分析显示外显子49和50缺失（CCMi（001DMD-A-3，Δ49，Δ50）。
Zotero 插件