Zhang Yanmin, Li Anmao, Huang Christopher L-H, Wang Guoxia, Wang Danying
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.
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。
