生成两种携带 Brugada 综合征相关突变 SCN5A-R282H 的诱导多能干细胞 (iPSC) 系。

IF 0.8 4区医学 Q4 BIOTECHNOLOGY & APPLIED MICROBIOLOGY

Stem cell research Pub Date : 2024-10-17 DOI:10.1016/j.scr.2024.103585

Nikola Z. Popović , Albert Blanch-Asensio , Tessa Visser , Christine L. Mummery , Richard P. Davis , Loukia Yiangou

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引用次数: 0

摘要

布鲁加达综合征（Brugada Syndrome，BrS）是一种可导致心脏性猝死的心律失常疾病。它通常与编码钠电压门控通道α亚基的 SCN5A 基因的功能缺失突变有关。我们在人类诱导多能干细胞（hiPSC）系中引入了 SCN5A 基因中的 BrS 相关突变 c.845G>A（p.R282H）。我们描述了两个品系，其中的突变与常见的多态性 c.1673A>G (p.H558R) 是相同（顺式）或相反（反式）的等位基因。这些 hiPSC 株系为研究这种突变的作用和多态性对 BrS 的影响提供了生理模型。

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Generation of two induced pluripotent stem cell (iPSC) lines carrying the Brugada Syndrome-associated mutation SCN5A-R282H

Brugada Syndrome (BrS) is a cardiac arrhythmia disorder which can lead to sudden cardiac death. It is commonly associated with loss-of-function mutations in the SCN5A gene, encoding the alpha subunit of the sodium voltage-gated channel. We introduced the BrS associated mutation c.845G>A (p.R282H) in the SCN5A gene in a human induced pluripotent stem cell (hiPSC) line. We describe two lines, where the mutation is either in the same (cis) or opposite (trans) allele to the common polymorphism c.1673A>G (p.H558R). These hiPSC lines provide physiological models to study the role of this mutation and the effect of the polymorphism in BrS.

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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.