从一名患有儿茶酚胺能多形性室性心动过速的婴儿中生成诱导多能干细胞（iPSC），该婴儿携带RyR2基因的双杂合突变A1855D和SCN10A基因的Q1362H。
Generation of induced pluripotent stem cells (iPSCs) from an infant with catecholaminergic polymorphic ventricular tachycardia carrying the double heterozygous mutations A1855D in RyR2 and Q1362H in SCN10A.
作者信息
Zhang Yanmin, Li Anmao, Huang Christopher L-H, Wang Guoxia, Wang Danying
机构信息
Children's Research Institute of Shaanxi Province, China; Xi'an Key Laboratory of Children's Health and Diseases, China; Department of Cardiology, Affiliate Children's Hospital of Xi'an Jiaotong University, Xi'an 710003, China.
Children's Research Institute of Shaanxi Province, China; Xi'an Key Laboratory of Children's Health and Diseases, China.
出版信息
Stem Cell Res. 2019 Aug;39:101509. doi: 10.1016/j.scr.2019.101509. Epub 2019 Jul 24.
Induced pluripotent stem cells (iPSCs) were generated from peripheral blood mononuclear cells (PBMCs) isolated from the peripheral blood of a 4 month-old boy with catecholaminergic polymorphic ventricular tachycardia carrying the double heterozygous mutations RyR2-A1855D and SCN10A-Q1362H. PBMCs were reprogrammed using non-integrative Sendai viral vectors containing reprogramming factors OCT4, SOX2, KLF4 and C-MYC. The iPSCs were shown to express pluripotent markers, have trilineage differentiation potential, carry RyR2-A1855D and SCN10A-Q1362H mutations and have a normal karyotype. They will be useful for studying the pathogenesis of CPVT patients with ≥2 variants.
诱导多能干细胞（iPSC）由一名4个月大患儿外周血分离的外周血单核细胞（PBMC）生成，该患儿患有儿茶酚胺能多形性室性心动过速，携带双杂合突变RyR2 - A1855D和SCN10A - Q1362H。使用含有重编程因子OCT4、SOX2、KLF4和C - MYC的非整合仙台病毒载体对PBMC进行重编程。这些iPSC显示出表达多能性标志物，具有三系分化潜能，携带RyR2 - A1855D和SCN10A - Q1362H突变且核型正常。它们将有助于研究具有≥2种变异的CPVT患者的发病机制。
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