杜兴氏肌营养不良症患者特异性诱导多能干细胞系的生成，该细胞系缺失肌营养不良蛋白基因的外显子45 - 50（IITi001 - A）
Generation of Duchenne muscular dystrophy patient-specific induced pluripotent stem cell line lacking exons 45-50 of the dystrophin gene (IITi001-A).
作者信息
Eisen Binyamin, Ben Jehuda Ronen, Cuttitta Ashley J, Mekies Lucy N, Reiter Irina, Ramchandren Sindhu, Arad Michael, Michele Daniel E, Binah Ofer
机构信息
Department of Physiology, Biophysics and Systems Biology, Ruth and Bruce Rappaport Faculty of Medicine, Technion - Israel Institute of Technology, Haifa, Israel.
Department of Physiology, Biophysics and Systems Biology, Ruth and Bruce Rappaport Faculty of Medicine, Technion - Israel Institute of Technology, Haifa, Israel; Department of Biotechnology, Technion - Israel Institute of Technology, Haifa, Israel.
出版信息
Stem Cell Res. 2018 May;29:111-114. doi: 10.1016/j.scr.2018.03.023. Epub 2018 Apr 3.
Abstract
Duchenne muscular dystrophy (DMD) is an X-linked progressive muscle degenerative disease caused by mutations in the dystrophin gene. We generated induced pluripotent stem cells (iPSCs) from a 13-year-old male patient carrying a deletion mutation of exons 45-50; iPSCs were subsequently differentiated into cardiomyocytes. iPSCs exhibit expression of the pluripotent markers (SOX2, NANOG, OCT4), differentiation capacity into the three germ layers, normal karyotype, genetic identity to the skin biopsy dermal fibroblasts and the patient-specific dystrophin mutation.
摘要
杜氏肌营养不良症（DMD）是一种由肌营养不良蛋白基因突变引起的X连锁进行性肌肉退行性疾病。我们从一名携带外显子45 - 50缺失突变的13岁男性患者身上生成了诱导多能干细胞（iPSC）；随后将iPSC分化为心肌细胞。iPSC表现出多能性标志物（SOX2、NANOG、OCT4）的表达、向三个胚层的分化能力、正常核型、与皮肤活检真皮成纤维细胞的基因一致性以及患者特异性的肌营养不良蛋白突变。
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