Zhang Yanmin, Li Huan, Wang Jie, Wang Guoxia, Tan Xiaoqiu, Lei Ming
Shaanxi Institute for Pediatric Diseases; Xi'an Key Laboratory of Children's Health and Diseases; Department of Cardiology, Xi'an Children's Hospital, No 69, Xijuyuan lane, Xi'an, 710003, China.
Department of Cardiology, Xi'an Children's Hospital, No 69, Xijuyuan lane, Xi'an, 710003, China.
Stem Cell Res. 2020 May;45:101798. doi: 10.1016/j.scr.2020.101798. Epub 2020 Apr 20.
Induced pluripotent stem cell lines (iPSCs) were generated from peripheral blood mononuclear cells (PBMCs) isolated from the peripheral blood of an eight months-old boy and the parents. Long QT syndrome type 5 (LQT5) was diagnosed after identifying a heterozygous c.226G>A (p.D76N) variant in KCNE1 gene carried by the boy and inherited from his father who has a prolonged QT in ECG as well. PBMCs were reprogrammed using non-integrative Sendai viral vectors containing reprogramming factors OCT4, SOX2, KLF4 and C-MYC. iPSCs were shown to express pluripotent markers, have trilineage differentiation potential, carry KCNE1-D76N mutation, have a normal karyotype. Thus we established 2 new LQT5 iPSC lines and a related control line as useful tools for studying the pathophysiological mechanism of LQT5 and drug testing.
诱导多能干细胞系（iPSCs）由一名8个月大男孩及其父母外周血中分离出的外周血单个核细胞（PBMCs）生成。在该男孩携带并从其父亲遗传的KCNE1基因中鉴定出杂合的c.226G>A（p.D76N）变体后，诊断为5型长QT综合征（LQT5），其父亲心电图也有QT间期延长。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PBMCs进行重编程。iPSCs显示表达多能性标志物，具有三系分化潜能，携带KCNE1-D76N突变，核型正常。因此，我们建立了2个新的LQT5 iPSC系和1个相关对照系，作为研究LQT5病理生理机制和药物测试的有用工具。
