AI Article Synopsis
- - Long QT syndrome type 1 (LQT1) is a heart disorder arising from mutations in the KCNQ1 gene, which can cause serious symptoms like palpitations, fainting, and even sudden cardiac arrest.
- - Researchers created induced pluripotent stem cells (iPSCs) from patients with LQT1 to study the effects of a specific genetic mutation (c.734G>A; p.Gly245Glu).
- - The iPSCs were generated using a non-integrative method (Sendai virus), ensuring they retain stem cell properties and can differentiate into various cell types, making them a valuable resource for studying LQT1.
Article Abstract
Long QT syndrome type 1 (LQT1) is a rare heart disorder caused by a loss-of-function mutation in the KCNQ1 gene that causes loss of Kv7.1 channel function, which can lead to Palpitations, Syncope, and Sudden cardiac arrest. We derived induced pluripotent stem cells from PBMC of LQT1 patients carrying a pathogenic variant (c.734G>A; p.Gly245Glu). The non-integrative Sendai virus-mediated iPSC reprogramming method was used for iPSC line generation. These iPSC cell lines exhibit stem cell pluripotency, differentiation capability, and cell morphology, resulting in a reliable cell source to study the effects of KCNQ1 mutation in disease-specific cell types.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1016/j.scr.2024.103571 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Want AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!