Generation of two human induced pluripotent stem cell lines, LUMCi020-A and LUMCi021-A, from two patients with Catecholaminergic Polymorphic Ventricular Tachycardia carrying heterozygous mutations in the RYR2 gene
Summary
Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT) is a malignant channelopathy associated with exercise- and stress-induced cardiac sudden death. The autosomal dominant form of CPVT is due to mutations in the ryanodine receptor 2 (RYR2) gene. We generated induced pluripotent stem cells (hiPSCs) from skin fibroblasts of two patients carrying the c.12441 G>T and c.14885 A>G RYR2 missense mutations, respectively, using non-integrating Sendai virus. These lines show the typical morphology of pluripotent cells, express pluripotency markers, display a normal karyotype and differentiate towards the three germ layers in vitro. These lines represent a human cellular model to study the molecular basis of CPVT. Copyright © 2020 The Author(s). Published by Elsevier B.V. All rights reserved.
| Authors | Meraviglia V, Arendzen CH, Freund C, Atsma DE, Mummery CL, Bellin M |
|---|---|
| Journal | Stem cell research |
| Publication Date | 2020 May;45:101764 |
| PubMed | 32315959 |
| DOI | 10.1016/j.scr.2020.101764 |