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

Stem Cell Res. 2023 Dec:73:103231. doi: 10.1016/j.scr.2023.103231. Epub 2023 Oct 18.

Abstract

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 prenatal onset for some of the features. The generation of this iPSC line (TRNDi032-A) carrying a heterozygous mutation, p.Cys682Leufs*7 (c.2044dup), in the JAG1 gene provides a means of studying the disease and developing novel therapeutics towards patient treatment.

Keywords: ALGS; Alagille syndrome; Human induced pluripotent stem cells; iPSC characterization; iPSC culture; iPSC passaging.

MeSH terms

  • Alagille Syndrome* / diagnosis
  • Alagille Syndrome* / genetics
  • Alagille Syndrome* / metabolism
  • Humans
  • Induced Pluripotent Stem Cells* / metabolism
  • Jagged-1 Protein / genetics
  • Jagged-1 Protein / metabolism
  • Mutation / genetics

Substances

  • Jagged-1 Protein
  • JAG1 protein, human