Xia Shutao, Wang Xvdong, Yue Peng, Li Yifei, Zhang Donghui
State Key Laboratory of Biocatalysis and Enzyme Engineering, School of Life Science, Hubei University, Wuhan, Hubei 430062, China.
Key Laboratory of Birth Defects and Related Diseases of Women and Children of MOE, Department of Pediatrics, West China Second University Hospital, Sichuan University, Chengdu, Sichuan 610041, China.
Stem Cell Res. 2020 Oct;48:101977. doi: 10.1016/j.scr.2020.101977. Epub 2020 Sep 2.
The mutations of desmoplakin (DSP) lead to arrhythmia right ventricular cardiomyopathy (ARVC) which is a kind of progressive cardiomyopathy characterized by arrhythmia, heart failure and sudden cardiac death. The human induced pluripotent stem (iPS) cell line HUBUi001-A was generated from a patient carrying the compound DSP heterozygous mutations (c.104G > T p.G35V; c.5617C > T p.R1873C), which were inherited from his parents (HUBUi002-A, HUBUi003- A), who presented a normal phenotype. We have derived the iPSC cell lines through peripheral blood mononuclear (PBMCs) cell reprogramming technology. Pluripotency and differentiation capacity have been confirmed by RT-PCR, immunocytochemistry and teratoma experiment. These cell lines can help us understand the pathogenic mechanism and screening potential therapeutic options.
桥粒斑蛋白（DSP）突变会导致心律失常性右室心肌病（ARVC），这是一种进行性心肌病，其特征为心律失常、心力衰竭和心源性猝死。人诱导多能干细胞（iPS）系HUBUi001-A由一名携带复合DSP杂合突变（c.104G>T p.G35V；c.5617C>T p.R1873C）的患者产生，这些突变遗传自其表型正常的父母（HUBUi002-A、HUBUi003-A）。我们通过外周血单个核细胞（PBMCs）重编程技术获得了iPSC细胞系。通过逆转录聚合酶链反应（RT-PCR）、免疫细胞化学和畸胎瘤实验证实了多能性和分化能力。这些细胞系有助于我们了解致病机制并筛选潜在的治疗方案。
