Generation of human induced pluripotent stem cell lines from three patients affected by Catecholaminergic Polymorphic ventricular tachycardia (CPVT) carrying heterozygous mutations in RYR2 gene


Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT) is an exercise and emotional stress-induced life-threatening inherited heart rhythm disorder, characterized by an abnormal cellular calcium homeostasis. Most reported cases have been linked to mutations in the gene encoding the type 2 ryanodine receptor gene, RYR2. We generated induced pluripotent stem cells (hiPSCs) from peripheral blood mononuclear cells (PBMC) from three CPVT-affected patients, two of them carrying p.R4959Q mutation and one carrying p.Y2476D mutation. These generated hiPSC lines are a useful model to study pathophysiological consequences of RYR2 dysfunction in humans and the molecular basis of CPVT. Copyright © 2022 The Authors. Published by Elsevier B.V. All rights reserved.

Authors Cimarosti B, Canac R, De Waard S, Girardeau A, Gaignerie A, Derevier A, Forest V, Ronjat M, Le Marec H, Gourraud JB, Lemarchand P, De Waard M, Lamirault G, Gaborit N
Journal Stem cell research
Publication Date 2022 Apr;60:102688
PubMed 35101670
DOI 10.1016/j.scr.2022.102688

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