建立携带肌营养不良蛋白基因第51-53外显子缺失的杜兴氏肌营养不良症患者来源的诱导多能干细胞系（CCMi003-A）。
Establishment of a Duchenne muscular dystrophy patient-derived induced pluripotent stem cell line carrying a deletion of exons 51-53 of the dystrophin gene (CCMi003-A).
作者信息
Rovina Davide, Castiglioni Elisa, Farini Andrea, Bellichi Marzia, Gervasini Cristina, Paganini Stefania, Di Segni Marina, Santoro Rosaria, Torrente Yvan, Pompilio Giulio, Gowran Aoife
机构信息
Centro Cardiologico Monzino-IRCCS, Unit of Vascular Biology and Regenerative Medicine, Milan, Italy.
Stem Cell Laboratory, Department of Pathophysiology and Transplantation, University of Milan, Unit of Neurology, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Centro Dino Ferrari, Milan, Italy.
出版信息
Stem Cell Res. 2019 Oct;40:101544. doi: 10.1016/j.scr.2019.101544. Epub 2019 Aug 20.
Duchenne's muscular dystrophy (DMD) is a neuromuscular disorder affecting skeletal and cardiac muscle function, caused by mutations in the dystrophin (DMD) gene. Dermal fibroblasts, isolated from a DMD patient with a reported deletion of exons 51 to 53 in the DMD gene, were reprogramed into induced pluripotent stem cells (iPSCs) by electroporation with episomal vectors containing the reprograming factors: OCT4, SOX2, LIN28, KLF4, and L-MYC. The obtained iPSC line showed iPSC morphology, expression of pluripotency markers, possessed trilineage differentiation potential and was karyotypically normal.
杜氏肌营养不良症（DMD）是一种影响骨骼和心脏肌肉功能的神经肌肉疾病，由肌营养不良蛋白（DMD）基因突变引起。从一名报告DMD基因外显子51至53缺失的DMD患者分离出的皮肤成纤维细胞，通过用含有重编程因子OCT4、SOX2、LIN28、KLF4和L-MYC的游离型载体进行电穿孔，重编程为诱导多能干细胞（iPSC）。所获得的iPSC系显示出iPSC形态、多能性标志物的表达，具有三系分化潜能且核型正常。
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