National Regional Children's Medical Center (Northwest), Key Laboratory of Precision Medicine to Pediatric Diseases of Shaanxi Province, Xi'an Key Laboratory of Children's Health and Diseases, Shaanxi Institute for Pediatric Diseases; Xi'an Children's Hospital, Affiliated Children's Hospital of Xi'an Jiaotong University, Xi'an, China.
Department of Cardiology, Xi'an Children's Hospital, Affiliated Children's Hospital of Xi'an Jiaotong University, China.
Stem Cell Res. 2021 May;53:102391. doi: 10.1016/j.scr.2021.102391. Epub 2021 May 11.
Induced pluripotent stem cell lines (iPSCs) were generated from peripheral blood mononuclear cells (PBMCs) isolated from the peripheral blood of a two month-old boy and the parents. Jervell and Lange-Nielsen syndrome (JLNS) was diagnosed in the boy carrying combined KCNQ1 frameshift c.431delC (p.I145Sfs*92) and nonsense c.1175G > A(p.W392X) variants inherited from his mother and father respectively. 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, carrying identified KCNQ1 variants with corresponding PBMC, and have a normal karyotype. Thus we established three iPSC lines as useful tools for studying the pathophysiological mechanism of JLNS and drug testing.
诱导多能干细胞系（iPSC）是从两个月大男孩及其父母外周血单个核细胞（PBMC）中分离出来的。该男孩携带 KCNQ1 移码 c.431delC（p.I145Sfs*92）和无义 c.1175G > A（p.W392X）复合变异，分别来自其母亲和父亲，被诊断为杰尔维伦-朗格尼综合征（JLNS）。使用含有重编程因子 OCT4、SOX2、KLF4 和 C-MYC 的非整合性 Sendai 病毒载体对 PBMC 进行重编程。iPSC 表达多能标记物，具有三系分化潜能，携带与相应 PBMC 相同的已鉴定的 KCNQ1 变异体，且具有正常核型。因此，我们建立了三个 iPSC 系，作为研究 JLNS 病理生理机制和药物测试的有用工具。
