Generation of a human induced pluripotent stem cell line (KSCBi016-A) from a CPVT patient with an RYR2 mutation
Summary
Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT) is an inherited arrhythmia disorder characterized by irregular heartbeats triggered by exercise or emotional stress. CPVT is primarily caused by genetic mutations in RYR2, which is crucial for calcium regulation in heart and muscle cells, ensuring proper contraction. In this paper, we developed a human induced pluripotent stem cell line (KSCBi016-A) from a CPVT patient carrying a heterozygous mutation in the RYR2 gene, c.1070G>T. The KSCBi016-A cell line retained stem cell-like morphology, maintained a normal karyotype, exhibited pluripotency, and could differentiate into three germ layers in vitro. Copyright © 2024 The Author(s). Published by Elsevier B.V. All rights reserved.
| Authors | Lee Y, Park HJ, Kim YO, Kim BY |
|---|---|
| Journal | Stem cell research |
| Publication Date | 2024 Dec;81:103560 |
| PubMed | 39321749 |
| DOI | 10.1016/j.scr.2024.103560 |