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Article

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

Stem cell research - 1 Aug 2025

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

Abstract excerpt

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),...

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Source

Identifiers

PMID: 40222083
DOI: 10.1016/j.scr.2025.103708

Genes

EMILIN1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

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