%0 Journal Article
%T Generation of JAG1 gene c.1615C > T heterozygous mutation human embryonic stem cell line (SDQLCHe001-A) using cytosine base editor.
%A Li Y
%A Wan Z
%A Wang B
%A Zhang H
%A Guan J
%A Yang X
%A Jin X
%A Ma X
%A Liu Y
%J Stem Cell Res
%V 70
%N 0
%D 2023 08 16
%M 37245339
%F 1.587
%R 10.1016/j.scr.2023.103120
%X Pathogenic variants in Jagged-1 (JAG1), which encodes the ligand of the Notch receptor, had been demonstrated to cause Alagille syndrome. However, there is no evidence to support any genotype-phenotype correlations. Here, we generated a gene-edited human embryonic stem cell (hESC) line (H9) carrying the c.1615C > T mutation in JAG1 that was identified in a patient with Alagille syndrome (ALGS). This modified cell line was accomplished by using cytosine base editor (CBE), and may serve as a valuable model for JAG1 mutaion related disease, and facilitate to gain more insight into the biological function of JAG1.