Generation of JAG1 gene c.1615C > T heterozygous mutation human embryonic stem cell line (SDQLCHe001-A) using cytosine base editor


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. Copyright © 2023. Published by Elsevier B.V.

Authors Li Y, Wan Z, Wang B, Zhang H, Guan J, Yang X, Jin X, Ma X, Liu Y
Journal Stem cell research
Publication Date 2023 Aug;70:103120
PubMed 37245339
DOI 10.1016/j.scr.2023.103120

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