Establishment of human embryonic stem cell lines carrying LQT1 mutations by CRISPR base editing
Summary
The KCNQ1 gene encodes a voltage-gated potassium channel required for cardiac action potentials. Mutations in this gene have been associated with hereditary long QT syndrome 1, Jervell and Lange-Nielsen syndromes, and familial atrial fibrillation. The NM_000218.3(KCNQ1): c.604 + 2T > C mutation has been categorized as the causative variant leading to LQT1. In this study, we generated a KCNQ1 (c.644 + 2T > C) mutation human embryonic stem cell line WAe009-A-1L based on CRISPR base editing system. WAe009-A-1L cell has the potential to differentiate cardiomyocytes and would be used as an in vitro disease model for mechanism exploration and drug screening. Copyright © 2024 The Author(s). Published by Elsevier B.V. All rights reserved.
| Authors | Wang X, Gao J, Liu C, Sun J |
|---|---|
| Journal | Stem cell research |
| Publication Date | 2024 Jul 14;79:103496 |
| PubMed | 39018827 |
| DOI | 10.1016/j.scr.2024.103496 |