生成基因组编辑的EMILIN1 (c.1606C>T) hiPSC细胞系，以研究体外主动脉瘤形成

IF 0.8 4区医学 Q4 BIOTECHNOLOGY & APPLIED MICROBIOLOGY

Stem cell research Pub Date : 2025-04-05 DOI:10.1016/j.scr.2025.103708

Yanhui Zhang , Michael Peitz , Bernd K. Fleischmann , Sarah Rieck

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引用次数: 0

摘要

EMILIN1 基因突变患者会出现各种症状，如主动脉瘤（AA）的形成和主动脉迂曲。他们发病早，病情发展严重，男性发病率更高（Adamo 等，2022 年）。我们生成了一个携带EMILIN1 c.1606C>T（p.Gln536*）突变（EMILIN1 C1606T）的同基因组编辑人类诱导多能干细胞（hiPSC）系，以及一个同源对照系（mock ctrl.）。我们评估了这些 hiPSC 株系的多能性及其向三个胚层分化的能力。这些细胞系为研究与 EMILIN1 c.1606C>T 相关的心血管疾病相关的细胞病理机制提供了一个平台。

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Generation of a genome-edited EMILIN1 (c.1606C>T) hiPSC line to investigate aortic aneurysm formation in vitro

Patients with EMILIN1 mutations experience a variety of symptoms, such as the formation of aortic aneurysm (AA) and aortic tortuosity. They suffer from early disease onset and severe disease progression with a higher prevalence in males (Adamo et al. 2022). We generated a homozygous genome-edited human induced pluripotent stem cell (hiPSC) line carrying the EMILIN1 c.1606C>T (p.Gln536*) mutation (EMILIN1 C1606T), along with an isogenic control line (mock ctrl.). We assessed the pluripotency of these hiPSC lines and their ability to differentiate into the three germ layers. These cell lines provide a platform for investigating the cellular pathomechanisms associated with EMILIN1 c.1606C>T-related cardiovascular diseases.

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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.