Generation of Alagille syndrome derived induced pluripotent stem cell line carrying heterozygous mutation in the JAGGED-1 gene at splicing site (Chr20: 10,629,709C>A) before exon 11

Summary

Alagille syndrome (ALGS) is a multisystem autosomal dominant disorder caused by defects in the Notch signaling pathway, including the mutation in JAGGED1 (JAG1) (ALGS type 1) or NOTCH2 (ALGS type 2). An induced pluripotent stem cell (iPSC) line was generated from the dermal fibroblasts of a 3-month-old patient with heterozygous mutation at JAG1 splicing site (Chr20: 10,629,709C>A) before exon 11. This iPSC model offers a useful resource for disease modeling to study the disease pathophysiology and to develop therapeutics for treatment of ALGS. Published by Elsevier B.V.

Authors Zhu W, Cheng YS, Xu M, Farkhondeh A, Beers J, Zou J, Liu C, Baumgaertel K, Rodems S, Zheng W
Journal Stem cell research
Publication Date 2021 May;53:102366
PubMed 34087995
DOI 10.1016/j.scr.2021.102366

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