通过CRISPR/Cas9基因组编辑技术生成杂合子钙调素2 F189L iPSC系（UMGi158-B），以研究塔克次氏综合征和儿茶酚胺能多态性室性心动过速的心脏病理生理学。

IF 0.8 4区医学 Q4 BIOTECHNOLOGY & APPLIED MICROBIOLOGY Stem cell research Pub Date : 2024-08-22 DOI:10.1016/j.scr.2024.103538

Gideon Syed Ali , Sabine Rebs , Hanna Eberl , Clarissa Zinke , Daniela Hübscher , Wiebke Maurer , Alexandra Busley , Lukas Cyganek , Katrin Streckfuss-Bömeke

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引用次数: 0

摘要

高猝死综合征（TTS）是一种可能危及生命的疾病，其特征是β肾上腺素能过度刺激时出现一过性左心室心尖肌无力。由于假定存在遗传易感性，我们生成了一个携带钙缓冲蛋白钙襄蛋白 2（CasQ2）p.F189L 突变的 iPSC 细胞系。这种错义突变以前在一名 TTS 患者身上发现过，并在一个儿茶酚胺能多态性室性心动过速（CPVT）家族中得到进一步描述。已建立的细胞系被用于利用患者特异性干细胞方法研究导致 TTS 和 CPVT 的主要机制。

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Generation of a heterozygous Calsequestrin 2 F189L iPSC line (UMGi158-B) by CRISPR/Cas9 genome editing to investigate the cardiac pathophysiology of Takotsubo Syndrome and Catecholaminergic Polymorphic Ventricular Tachycardia

Takotsubo Syndrome (TTS) is a potentially life-threatening disease characterized by a transient left ventricular apical akinesia in response to β-adrenergic overstimulation. Since a genetic predisposition is assumed, we generated an iPSC-line carrying a p.F189L mutation in the calcium buffering protein Calsequestrin 2 (CasQ2). This missense mutation was previously discovered in a TTS patient and further described in a family with Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT). The established cell line is used to investigate the main mechanisms leading to TTS and CPVT using a patient-specific stem cell approach.

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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.