Generation of a genome-edited EMILIN1 (c.1606C>T) hiPSC line to investigate aortic aneurysm formation in vitro
Summary
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. Copyright © 2025 The Author(s). Published by Elsevier B.V. All rights reserved.
| Authors | Zhang Y, Peitz M, Fleischmann BK, Rieck S |
|---|---|
| Journal | Stem cell research |
| Publication Date | 2025 Aug;86:103708 |
| PubMed | 40222083 |
| DOI | 10.1016/j.scr.2025.103708 |