Generation of an isogenic CRISPR/Cas9-corrected control induced pluripotent stem cell line from a patient with autosomal dominant catecholaminergic polymorphic ventricular tachycardia with a heterozygous variant in cardiac calsequestrin-2
Summary
Catecholaminergic polymorphic ventricular tachycardia (CPVT) is an inherited cardiac disease characterised by adrenergic-induced arrhythmias. The leading causes of CPVT are pathogenic variants in cardiac ryanodine receptor 2 (RYR2) and rarely, in cardiac calsequestrin-2 (CASQ2) genes, which are major components of Ca2+ handling in cardiac myocytes. This resource builds upon an established induced pluripotent stem cell line generated from a family with autosomal dominant CPVT due to a heterozygous variant in CASQ2 c.539A > G, p.Lys180Arg (CIAUi003-A) (Ross et al., 2019). The current iPSC line was genetically modified using CRISPR/Cas9 to correct the pathogenic c.539A > G variant creating a CRISPR-corrected isogenic control line (CIAUi003-A-1). Copyright © 2025 The Authors. Published by Elsevier B.V. All rights reserved.
| Authors | Ranpura GN, Holliday M, Li S, Ross SB, Singer ES, Fraser ST, Bagnall RD, Semsarian C, Lim S |
|---|---|
| Journal | Stem cell research |
| Publication Date | 2024 Dec 31;83:103650 |
| PubMed | 39826349 |
| DOI | 10.1016/j.scr.2024.103650 |