从一名 RYR2 基因突变的 CPVT 患者体内生成人类诱导多能干细胞系 (KSCBi016-A)

IF 0.8 4区医学 Q4 BIOTECHNOLOGY & APPLIED MICROBIOLOGY

Stem cell research Pub Date : 2024-09-13 DOI:10.1016/j.scr.2024.103560

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

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引用次数: 0

摘要

儿茶酚胺能多态性室性心动过速（CPVT）是一种遗传性心律失常疾病，其特点是运动或情绪紧张时引发心律不齐。CPVT 主要是由 RYR2 基因突变引起的，RYR2 对心脏和肌肉细胞的钙调节至关重要，可确保正常收缩。在本文中，我们从一名携带 RYR2 基因（c.1070G>T）杂合子突变的 CPVT 患者身上培育出了人类诱导多能干细胞系（KSCBi016-A）。KSCBi016-A细胞系保留了干细胞样形态，保持了正常核型，具有多能性，并能在体外分化成三个生殖层。

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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.

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来源期刊

Stem cell research 生物-生物工程与应用微生物

CiteScore

2.20

自引率

8.30%

发文量

338

审稿时长

55 days

期刊介绍： Stem Cell Research is dedicated to publishing high-quality manuscripts focusing on the biology and applications of stem cell research. Submissions to Stem Cell Research, may cover all aspects of stem cells, including embryonic stem cells, tissue-specific stem cells, cancer stem cells, developmental studies, stem cell genomes, and translational research. Stem Cell Research publishes 6 issues a year.