Generation of an induced pluripotent stem cell line (TRNDi031-A) from a patient with Alagille syndrome type 1 carrying a heterozygous p. C312X (c. 936 T > A) mutation in JAGGED-1


Alagille syndrome (ALGS) is a rare autosomal dominant disorder caused by disruption of the Notch signaling pathway due to mutations in either JAGGED1 (JAG1) (ALGS type 1) or NOTCH2 (ALGS type 2). Loss of this signaling interferes with the development of many organs, but especially the liver. A human induced pluripotent stem cell (iPSC) line was generated from the fibroblasts of a patient with a p. C312X (c. 936 T > A) variant in JAG1. This iPSC line offers a valuable resource to study the disease pathophysiology and develop therapeutics to treat patients with ALGS. Published by Elsevier B.V.

Authors Brooks BM, Pradhan M, Cheng YS, Gorshkov K, Farkhondeh A, Chen CZ, Beers J, Liu C, Baumgaertel K, Rodems S, Zheng W
Journal Stem cell research
Publication Date 2021 Jul;54:102447
PubMed 34198154
PubMed Central PMC8300001
DOI 10.1016/j.scr.2021.102447

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