Work

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

Year: 2024

Type: article

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.

Source: Stem Cell Research

DOI: 10.1016/j.scr.2024.103560

Authors: Youngsun Lee, Hun-Jun Park, Yong-Ou Kim, Bo-Young Kim

Institutions: Korea National Institute of Health, The Catholic University of Korea Seoul St. Mary's Hospital, Catholic University of Korea

Language: English

Topic: Pluripotent Stem Cells Research

Subfield: Molecular Biology

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: gold

Estimated APC paid: $2,320