诱导多能干细胞系的建立，源自一名患有儿茶酚胺多形性室性心动过速的中国汉族儿童。
Generation of an induced pluripotent stem cell line from a Chinese Han child with catecholaminergic polymorphic ventricular tachycardia.
机构信息
Department of Cardiology, Shanghai Children's Hospital, School of Medicine, Shanghai Jiao Tong University, No. 355 Luding Road, Shanghai 200062, China.
Department of Pediatric Internal Medicine, Huashan Hospital, Fudan University, No.108 Luxiang Road, Shanghai 201900, China.
出版信息
Stem Cell Res. 2022 Jul;62:102811. doi: 10.1016/j.scr.2022.102811. Epub 2022 May 11.
TECRL, first reported in a Sudanese family with catecholaminergic polymorphic ventricular tachycardia (CPVT) in 2016. TECRL, is an endoplasmic reticulum (ER) protein preferentially expressed in the heart, playing a role in cardiomyocyte calcium homeostasis. Using Sendaivirus-mediated reprogramming, we generated an induced pluripotent stem cell (iPSC) line from the CPVT patient's peripheral blood mononuclear cell. The iPSC exhibited stable amplification, expressed pluripotent markers, and differentiated spontaneously into three layers in vitro. Additionally, the iPSC line maintained a normal karyotype, retained the pathogenic TECRL mutation, and the cell resource facilitated a platform to explore the CPVT mechanisms related to TECRL mutations.
TECRL，于 2016 年在一个苏丹家族的儿茶酚胺多形性室性心动过速（CPVT）患者中首次报道。TECRL 是内质网（ER）蛋白，在心脏中优先表达，在心肌细胞钙稳态中发挥作用。我们使用 Sendaivirus 介导的重编程，从 CPVT 患者的外周血单核细胞中生成了一个诱导多能干细胞（iPSC）系。iPSC 表现出稳定的扩增，表达多能标志物，并在体外自发分化为三层。此外，iPSC 系保持正常核型，保留致病性 TECRL 突变，细胞资源为探索与 TECRL 突变相关的 CPVT 机制提供了一个平台。
Zotero 插件