携带DSP基因复合杂合突变的ARVC患者诱导多能干细胞系的建立

Abstract

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.