Establishment of a human iPSC line XMDYYYi001-A from a patient with Becker muscular dystrophy harboring duplications of exons 2-19 in dystrophin gene
Establishment of a human iPSC line XMDYYYi001-A from a patient with Becker muscular dystrophy harboring duplications of exons 2-19 in dystrophin gene
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从患有抗肌营养不良蛋白基因中含有外显子 2-19 重复的 Becker 肌营养不良症患者中建立人 iPSC 系 XMDYYYi001-A
DOI：
10.1016/j.scr.2021.102298
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发表时间：
2021
影响因子：
1.2
通讯作者：
Wang Ning
中科院分区：
文献类型：
--
作者：
Wang Danni;Lin Jiajia;Jin Ming;Wang Ning
Becker肌营养不良症(BMD)是一种X连锁的隐性肌肉疾病，由肌营养不良蛋白突变引起。我们从一位Ddystrophin基因外显子2-19重复的患者的外周血单核细胞(PBMC)中获得了一个人IPSC系。使用含有人OCT4、SOX2、NANOG、LIN28、C-MYC、KLF4和SV40LT表达的外体重编程质粒对PBMC进行重编程。我们对IPSCs进行了核型分析、表达的多能标记和形成三层胚层的畸胎瘤的检测。IPSC系是进一步研究基因治疗或新的治疗药物的有用细胞模型。
Becker muscular dystrophy (BMD) is an X-linked recessive muscular disorder caused by mutations in thedystrophin. We generated a human iPSC line from peripheral blood mononuclear cells (PBMCs) of a patient with duplications of exons 2-19 in thedystrophin. 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.