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,...

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Bibliographic Details
Published in:Stem cell research 2024-12, Vol.81, p.103560, Article 103560
Main Authors: Lee, Youngsun, Park, Hun-Jun, Kim, Yong-Ou, Kim, Bo-Young
Format: Article
Language:English
Subjects:
Cell Differentiation
Cell Line
Humans
Induced Pluripotent Stem Cells - metabolism
Male
Mutation
Ryanodine Receptor Calcium Release Channel - genetics
Ryanodine Receptor Calcium Release Channel - metabolism
Tachycardia, Ventricular - genetics
Tachycardia, Ventricular - pathology
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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.
ISSN:1873-5061
1876-7753
1876-7753
DOI:10.1016/j.scr.2024.103560