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Generation of induced pluripotent stem cell lines TRNDi037-A and TRNDi038-A from two patients with Alagille syndrome carrying heterozygous JAG1 mutations.

Stem cell research - 1 Feb 2025

Evans Elena F, Chen Guibin, Pavlinov Ivan, Huang Xiuli, Linask Kaari, Liu Chengyu, Lopez Alexander Rodriguez, Gilbert Melissa A, Spinner Nancy B, Rodemse Steven, Baumgärtele Karsten, Chen Catherine Z, Zou Jizhong, Zheng Wei

Abstract excerpt

Human induced pluripotent stem cell (iPSC) lines TRNDi037-A and TRNDi038-A were generated from the lymphoblastoid cell lines (LCL) of two patients with different heterozygous JAG1 variants resulting in Alagille syndrome (ALGS). ALGS is a rare genetic disease of haploinsufficiency that affects the formation of the bile duct, in addition to other symptoms. These ALGS iPSC lines can be used to model ALGS and aid in...

Topics

Female
Humans
Male
Alagille Syndrome
Cell Line
Heterozygote
Induced Pluripotent Stem Cells
Jagged-1 Protein
Mutation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 39719802
DOI: 10.1016/j.scr.2024.103634
PMCID: PMC11787771

Genes

JAG1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

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Generation of induced pluripotent stem cell lines TRNDi037-A and TRNDi038-A from two patients with Alagille syndrome carrying heterozygous JAG1 mutations.PMID 39719802Read ↗

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