Generation of a human induced pluripotent stem cell line (KSCBi016-A) from a CPVT patient with an RYR2 mutation

초록

Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT) is an inherited arrhythmia disorder characterized by irregular heartbeats triggered by exercise emotional stress. CPVT is primarily caused by genetic mutations in RYR2, , which is crucial for calcium regulation in heart and muscle cells, ensuring contraction. In this paper, we developed a human induced pluripotent stem cell line (KSCBi016-A) from a CPVT patient carrying a heterozygous mutation RYR2 gene, c.1070G>T. The KSCBi016-A cell line retained stem cell-like morphology, maintained a normal karyotype, exhibited pluripotency, and could entiate into three germ layers in vitro.