从一位 Becker 型肌营养不良症（BMD）患者中诱导生成的人诱导多能干细胞系（INNDSUi003-A）。
Generation of a human induced pluripotent stem cell line (INNDSUi003-A) derived from patient with Becker muscular dystrophy (BMD).
机构信息
Research Institute of Neuromuscular and Neurodegenerative Diseases and Department of Neurology, Qilu Hospital, Cheeloo College of Medicine, Shandong University, Jinan 250012, Shandong, People's Republic of China; Shandong Provincial Third Hospital, Jinan 250012, Shandong, People's Republic of China.
Prenatal Diagnostic Center of Obstetrics and Gynecology Department, Qilu Hospital, Shandong University, Jinan 250012, Shandong, People's Republic of China.
出版信息
Stem Cell Res. 2022 Jul;62:102794. doi: 10.1016/j.scr.2022.102794. Epub 2022 Apr 27.
Becker muscular dystrophy (BMD), an X-linked recessive disorder caused of mutation in the dystrophin gene, is characterized by progressive muscle degeneration and proximal muscle weakness. We generated a human induced pluripotent stem cell (hiPSC) line from the fibroblasts isolated from patient with BMD by non-integrating reprogramming methods. The iPSC line highly expresses pluripotency markers, displays the normal karyotype and is able to differentiate into the three germ layers in vitro. The iPSC line will be a useful tool to study the pathogenesis of BMD and for drug screening.
贝克肌营养不良症（BMD）是一种 X 连锁隐性遗传病，由肌营养不良蛋白基因突变引起，其特征是进行性肌肉退化和近端肌肉无力。我们通过非整合重编程方法，从 BMD 患者的成纤维细胞中产生了一个人诱导多能干细胞（hiPSC）系。该 iPSC 系高度表达多能性标记物，具有正常核型，并能在体外分化为三个胚层。该 iPSC 系将成为研究 BMD 发病机制和药物筛选的有用工具。
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