Generation of catecholaminergic polymorphic ventricular tachycardia patient-specific induced pluripotent stem cell line


Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT) is a genetic disorder characterized by ventricular tachycardia, that can cause the heart to stop beating leading to death. The prevalence is 1/10.000 and in approximately 60% of cases, the syndrome can be due to a mutation of the cardiac ryanodine receptor gene (RyR2). We derived an induced pluripotent stem cell (iPSC) line from an 11-year-old patient blood-cells, carrying a heterozygous missense mutation on the 8th exon of the RyR2 N-terminal part. This reprogramed CPVT line displayed normal karyotype, expressed pluripotent markers and had a capacity to differentiate in trilineage embryonic layers. Copyright © 2022 The Authors. Published by Elsevier B.V. All rights reserved.

Authors Colombani S, Bernardin AA, Vincenti M, Amédro P, Desprat R, Bernex F, Lemaitre JM, Pasquié JL, Lacampagne A, Meli AC
Journal Stem cell research
Publication Date 2022 Apr;60:102727
PubMed 35245853
DOI 10.1016/j.scr.2022.102727

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