%0 Journal Article
%T Establishment of human embryonic stem cell lines carrying LQT1 mutations by CRISPR base editing.
%A Wang X
%A Gao J
%A Liu C
%A Sun J
%J Stem Cell Res
%V 79
%N 0
%D 2024 Sep 14
%M 39018827
%F 1.587
%R 10.1016/j.scr.2024.103496
%X 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.