将一名患有杜氏肌营养不良症的中国患者的人外周血单个核细胞（PBMC）重编程为携带DMD基因第49-50外显子缺失的诱导多能干细胞系（SDQLCHi007-A）。
Reprogramming of human Peripheral Blood Mononuclear Cell (PBMC) from a Chinese patient suffering Duchenne muscular dystrophy to iPSC line (SDQLCHi007-A) carrying deletion of 49-50 exons in the DMD gene.
作者信息
Guan Jingyun, Liu Xinnong, Zhang Haiyan, Yang Xiaomeng, Ma Yanyan, Li Yue, Gai Zhongtao, Liu Yi
机构信息
Pediatric Research Institute, Qilu Children's Hospital of Shandong University, Jinan, Shandong 250022, China.
Department of Vascular Surgery, State Key Laboratory of Cardiovascular Disease, Fuwai Hospital, National Center for Cardiovascular Diseases, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing 100037,China.
出版信息
Stem Cell Res. 2020 Jan;42:101666. doi: 10.1016/j.scr.2019.101666. Epub 2019 Nov 23.
Duchenne muscular dystrophy (DMD), an X-linked genetic disorder characterized by progressive muscle weakness and atrophies affecting skeletal and cardiac muscles, is caused by mutations in dystrophin (DMD) gene that spans 79 exons. Here, we generated iPSCs from a Chinese patient with 49-50 exons deletion in DMD gene by reprogramming peripheral blood mononuclear cells with non-integrating vectors. The generated iPSCs line (SDQLCHi007-A) carrying the identical deletion of 49-50 exons, expresses pluripotency markers, presents a normal karyotype and is able to differentiate into three germ layers.
杜氏肌营养不良症（DMD）是一种X连锁遗传病，其特征为进行性肌肉无力以及影响骨骼肌和心肌的萎缩，由横跨79个外显子的肌营养不良蛋白（DMD）基因突变引起。在此，我们通过使用非整合载体重编程外周血单个核细胞，从一名DMD基因第49至50外显子缺失的中国患者中生成了诱导多能干细胞。所生成的诱导多能干细胞系（SDQLCHi007-A）携带相同的第49至50外显子缺失，表达多能性标志物，呈现正常核型，并且能够分化为三个胚层。
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