Establishment of induced pluripotent stem cell lines from a family of an ARVC patient receiving heart transplantation in infant age carrying compound heterozygous mutations in DSP gene


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. Copyright © 2020 The Authors. Published by Elsevier B.V. All rights reserved.

Authors Xia S, Wang X, Yue P, Li Y, Zhang D
Journal Stem cell research
Publication Date 2020 Oct;48:101977
PubMed 32942234
DOI 10.1016/j.scr.2020.101977

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