生成经基因组编辑的EMILIN1（c.1606C>T）人诱导多能干细胞系以在体外研究主动脉瘤形成。
Generation of a genome-edited EMILIN1 (c.1606C>T) hiPSC line to investigate aortic aneurysm formation in vitro.
作者信息
Zhang Yanhui, Peitz Michael, Fleischmann Bernd K, Rieck Sarah
机构信息
Institute of Physiology I, University of Bonn, Medical Faculty, Bonn, Germany.
Cell Programming Core Facility, University of Bonn, Medical Faculty, Bonn, Germany.
出版信息
Stem Cell Res. 2025 Aug;86:103708. doi: 10.1016/j.scr.2025.103708. Epub 2025 Apr 5.
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.
携带EMILIN1突变的患者会出现多种症状，如主动脉瘤（AA）形成和主动脉迂曲。他们发病早，疾病进展严重，男性患病率更高（阿达莫等人，2022年）。我们生成了一个携带EMILIN1 c.1606C>T（p.Gln536*）突变的纯合基因组编辑人类诱导多能干细胞（hiPSC）系（EMILIN1 C1606T），以及一个同基因对照系（mock ctrl.）。我们评估了这些hiPSC系的多能性及其分化为三个胚层的能力。这些细胞系为研究与EMILIN1 c.1606C>T相关的心血管疾病的细胞发病机制提供了一个平台。
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