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Updated: Jun 12, 2025

Rapid and Efficient Generation of Recombinant Human Pluripotent Stem Cells by Recombinase-mediated Cassette Exchange in the AAVS1 Locus
Published on: November 20, 2016
Generation of a human induced pluripotent stem cell line (KSCBi016-A) from a CPVT patient with an RYR2 mutation
Youngsun Lee1, Hun-Jun Park2, Yong-Ou Kim1
1Division of Intractable Diseases Research, National Institute of Health, Cheongju, Republic of Korea; Korea National Stem Cell Bank, National Institute of Health, Cheongju, Republic of Korea.
Abstract:
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.
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