Zhang Yanmin, Wang Jie, Zhou Yafei, Li Huan, Li Anmao, Tan Xiaoqiu, Wang Guoxia, Lei Ming
Shaanxi Institute for Pediatric Diseases, China; Xi'an Key Laboratory of Children's Health and Diseases|Xi'an Key Laboratory of Children's Health and Diseases, China; Department of Cardiology, Xi'an Children's Hospital, Affiliated Children's Hospital of Xi'an Jiaotong University, Xi'an 710003, China.
Shaanxi Institute for Pediatric Diseases, China; Xi'an Key Laboratory of Children's Health and Diseases|Xi'an Key Laboratory of Children's Health and Diseases, China.
Stem Cell Res. 2020 Jul 15;47:101912. doi: 10.1016/j.scr.2020.101912.
Induced pluripotent stem cell lines (iPSCs) were generated from peripheral blood mononuclear cells (PBMCs) isolated from the peripheral blood of a 14 year-old boy and his mother using same protocols. Diagnosis of combined oxidative phosphorylation deficiency (COXPD) was established after identifying a homozygous c.823C > T(p.L275F) variant in C1QBP gene carried by the boy, inherited from his asymptomatic consanguineous parents carrying this heterozygous variant. 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 C1QBP-L275F mutation, have a normal karyotype. These lines are useful tools for studying the pathophysiological mechanism of COXPD.
使用相同方案从一名14岁男孩及其母亲外周血中分离出的外周血单个核细胞（PBMC）中生成了诱导多能干细胞系（iPSC）。在鉴定出该男孩携带的C1QBP基因中一个纯合的c.823C>T（p.L275F）变异体后，确诊为联合氧化磷酸化缺陷（COXPD），该变异体遗传自其携带此杂合变异体的无症状近亲父母。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。iPSC显示出表达多能性标志物，具有三系分化潜能，携带C1QBP-L275F突变，核型正常。这些细胞系是研究COXPD病理生理机制的有用工具。
