Generation of an Alagille syndrome (ALGS) patient-derived induced pluripotent stem cell line (TRNDi032-A) carrying a heterozygous mutation (p.Cys682Leufs*7) in the JAG1 gene
Alagille syndrome (ALGS) is an autosomal dominant, multisystemic disorder due to haploinsufficiency in either the JAG1 gene (ALGS type 1) or the NOTCH2 gene (ALGS type 2). The disease has been difficult to diagnose and treat due to its muti-system clinical presentation, variable expressivity, and pr...
Main Authors: | , , , , , , , , , , , |
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Format: | Article |
Language: | English |
Published: |
Elsevier
2023-12-01
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Series: | Stem Cell Research |
Subjects: | |
Online Access: | http://www.sciencedirect.com/science/article/pii/S1873506123002179 |