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