建立一个来自贝克尔型肌营养不良症患者的人诱导多能干细胞系 XMDYYYi001-A，该患者携带肌营养不良蛋白基因外显子 2-19 的重复。
Establishment of a human iPSC line XMDYYYi001-A from a patient with Becker muscular dystrophy harboring duplications of exons 2-19 in dystrophin gene.
机构信息
Department of Neurology, The First Affiliated Hospital of Xiamen University, Xiamen 361003, China.
The Graduate School of Fujian Medical University, Fuzhou 350005, China.
出版信息
Stem Cell Res. 2021 May;53:102298. doi: 10.1016/j.scr.2021.102298. Epub 2021 Mar 18.
Becker muscular dystrophy (BMD) is an X-linked recessive muscular disorder caused by mutations in the dystrophin. We generated a human iPSC line from peripheral blood mononuclear cells (PBMCs) of a patient with duplications of exons 2-19 in the dystrophin. The PBMCs were reprogrammed using the episomal reprogramming plasmids contained a combination of expressions of human OCT4, SOX2, NANOG, LIN28, C-MYC, KLF4 and SV40LT. We conducted the tests on the iPSCs including Karyotype analysis, expressed pluripotency markers and teratoma forming three germ layers. The iPSC line is a useful cell model to further research on genetic treatment or new therapeutic drugs.
贝克肌营养不良症（BMD）是一种 X 连锁隐性肌肉疾病，由肌营养不良蛋白中的突变引起。我们从患有肌营养不良蛋白外显子 2-19 重复的患者的外周血单核细胞（PBMCs）中生成了一个人类 iPSC 系。使用含有人类 OCT4、SOX2、NANOG、LIN28、C-MYC、KLF4 和 SV40LT 表达组合的 episomal 重编程质粒对 PBMCs 进行了重编程。我们对 iPSCs 进行了包括染色体分析、表达多能性标记物和三胚层形成的畸胎瘤形成的测试。该 iPSC 系是进一步研究遗传治疗或新型治疗药物的有用细胞模型。
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