Generation of an Alagille Syndrome (ALGS) patient-derived induced pluripotent stem cell line (TRNDi036-A) carrying a heterozygous mutation (p.Cys693*) in the JAG1 gene.

产生带有杂合突变的 Alagille 综合征 （ ALGS ） 患者来源的诱导多能干细胞系 （ TRNDi036 - A ） （ p 。Cys693 *) 在 JAG1 基因中。

• 影响指数: 1.587
• 发表时间: 2024 Jun 29
• 来源期刊: Stem Cell Res
• DOI: 10.1016/j.scr.2024.103429
• PMID: 38703666
• 文章类型: Journal Article
• 中科院分区: Q3
• 方向: 生物
• 作者列表: Hatim O,Xu M,Pavlinov I,Linask K,Beers J,Zou J,Liu C,Rodems S,Baumgärtel K,Gilbert MA,Spinner NB,Chen C,Zheng W

Mesh: Alagille Syndrome / genetics; Humans; Jagged-1 Protein / genetics metabolism; Induced Pluripotent Stem Cells / metabolism; Heterozygote; Mutation; Cell Line; Male; Female

Abstract

Alagille syndrome (ALGS) is an autosomal dominant, multisystemic disorder due to haploinsufficiency in JAG1 or less frequently, mutations in NOTCH2. The disease has been difficult to diagnose and treat due to variable expression. The generation of this iPSC line (TRNDi036-A) carrying a heterozygous mutation (p.Cys693*) in the JAG1 gene provides a means of studying the disease and developing novel therapeutics towards patient treatment.

摘要

Alagille综合征(ALGS)是一种常染色体显性,由于JAG1中单倍体功能不全或频率较低，NOTCH2中的突变。由于可变表达，该疾病难以诊断和治疗。该iPSC系（TRNDi036-A）的产生带有杂合突变（p。JAG1基因中的Cys693*）提供了一种研究疾病和开发针对患者治疗的新型疗法的方法。