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

Abstract

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.

• Authors: Bastien Cimarosti, Robin Canac, Stephan De Waard, Aurore Girardeau, Anne Gaignerie, Aude Derevier, Virginie Forest, Michel Ronjat, Hervé Le Marec, Jean-Baptiste Gourraud, Patricia Lemarchand, Michel De Waard, Guillaume Lamirault, Nathalie Gaborit
• Journal: Stem cell research (Stem Cell Res) Vol. 60 Pg. 102688 (04 2022) ISSN: 1876-7753 [Electronic] England
• PMID: 35101670 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)
• Copyright: Copyright © 2022 The Authors. Published by Elsevier B.V. All rights reserved.

Chemical References

• Ryanodine Receptor Calcium Release Channel
• Calcium

Topics

• Calcium (metabolism)
• Humans
• Induced Pluripotent Stem Cells (metabolism)
• Leukocytes, Mononuclear (metabolism)
• Mutation (genetics)
• Ryanodine Receptor Calcium Release Channel (genetics)
• Tachycardia, Ventricular