Generation of iPSC line NCHi012-A from a patient with Alagille syndrome and heterozygous pathogenic variant in the JAG1 gene


Alagille syndrome (ALGS) is an autosomal dominant disease affecting the liver, heart and other organs with high variability. About 95% of ALGS cases are associated with pathogenic variants in JAG1, encoding the Jagged1 ligand that binds to Notch receptors. The iPSC line NCHi012-A was derived from an ALGS patient with cholestatic liver disease and mild pulmonary stenosis, who is heterozygous for a 2 bp deletion in the JAG1 coding sequence. We report here an initial characterization of NCHi012-A to evaluate its morphology, pluripotency, differentiation potential, genotype, karyotype and identity to the source patient. Copyright © 2023 The Author(s). Published by Elsevier B.V. All rights reserved.

Authors Cunningham D, Stanberry I, Ye S, Alonzo M, Zhao MT, Garg V, Lilly B
Journal Stem cell research
Publication Date 2023 Sep;71:103177
PubMed 37549562
DOI 10.1016/j.scr.2023.103177

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