Generation of a human induced pluripotent stem cell line UGENTi002-A from an arrhythmogenic cardiomyopathy patient carrying the c.817C>T DSP heterozygous variant and isogenic control using CRISPR/Cas9 editing

IF 0.8 4区医学 Q4 BIOTECHNOLOGY & APPLIED MICROBIOLOGY Stem cell research Pub Date : 2024-08-22 DOI:10.1016/j.scr.2024.103537

Laurens Léger , Jeffrey Aalders , Nina Heymans , Kiara Van Acker-Verberckt , Léa De Bleeckere , Paul Coucke , Björn Menten , Barbara Bauce , Libero Vitiello , Alessandra Rampazzo , Martina Calore , Jolanda van Hengel

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Abstract

Arrhythmogenic cardiomyopathy is a severe genetic heart muscle disease characterized by fibro-fatty replacement of the myocardium. Pathogenic variants causal for this disease are mainly located in desmosomal genes, including desmoplakin (DSP). Renal epithelial cells were isolated from a patient carrying the heterozygous c.817C>T (p.Q273*, nonsense) pathogenic variant in DSP, and subsequently reprogrammed using the Cytotune®-iPS 2.0 Sendai Reprogramming Kit. An isogenic control line was generated using CRISPR/Cas9 genome editing. The resulting induced pluripotent stem cell lines were characterized and displayed the required traits for in vitro disease modeling.

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利用 CRISPR/Cas9 编辑技术，从携带 c.817C>T DSP 杂合子变异的心律失常性心肌病患者和同源对照组中生成人类诱导多能干细胞系 UGENTi002-A

心律失常性心肌病是一种严重的遗传性心肌病，其特征是心肌的纤维脂肪替代。导致这种疾病的致病变体主要位于脱膜基因，包括脱膜蛋白（DSP）。从一名携带 DSP 杂合子 c.817C>T（p.Q273*，无义）致病变体的患者身上分离出肾上皮细胞，然后使用 Cytotune®-iPS 2.0 仙台重编程试剂盒对其进行重编程。利用 CRISPR/Cas9 基因组编辑技术生成了一个同源对照品系。对由此产生的诱导多能干细胞系进行了表征，并显示出体外疾病建模所需的特征。

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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.