Generation of a human induced pluripotent stem cell line (KSCBi016-A) from a CPVT patient with an RYR2 mutation
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.
Authors
- Yong‐Ou Kim (ORCID: https://orcid.org/0000-0002-2040-2002)
- Bo Young Kim (ORCID: https://orcid.org/0000-0002-5659-2389)
- Hun‐Jun Park (ORCID: https://orcid.org/0000-0001-8009-9546)
- Youngsun Lee (ORCID: https://orcid.org/0000-0001-8240-7506)
Institutions
- Korea National Institute of Health (KR)
- The Catholic University of Korea Seoul St. Mary's Hospital (KR)
- Catholic University of Korea (KR)
Publication Details
- Journal
- Stem Cell Research
- Published
- 2024-09-13
- DOI
- https://doi.org/10.1016/j.scr.2024.103560
- Primary Topic
- Cardiac electrophysiology and arrhythmias
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- Korea National Institute of Health