Characterization of an induced pluripotent stem cell line NCHi011-A from a 23-year-old female with Alagille Syndrome harboring a heterozygous JAG1 pathogenic variant
Summary
Alagille syndrome (ALGS) is a multisystem disease with high variability in clinical features. ALGS is predominantly caused by pathogenic variants in the Notch ligand JAG1. An iPSC line, NCHi011-A, was generated from a ALGS patient with complex cardiac phenotypes consisting of pulmonic valve and branch pulmonary artery stenosis. NCHi011-A is heterozygous for a single base duplication causing a frameshift in the JAG1 gene. This iPSC line demonstrates normal cellular morphology, expression of pluripotency markers, trilineage differentiation potential, and identity to the source patient. NCHi011-A provides a resource for modeling ALGS and investigating the role of Notch signaling in the disease. Copyright © 2023 The Authors. Published by Elsevier B.V. All rights reserved.
| Authors | Stanberry I, Cunningham D, Ye S, Alonzo M, Zhao MT, Garg V, Lilly B |
|---|---|
| Journal | Stem cell research |
| Publication Date | 2023 Oct;72:103213 |
| PubMed | 37774637 |
| PubMed Central | PMC10807224 |
| DOI | 10.1016/j.scr.2023.103213 |