建立一名患有 Alagille 综合征（ALGS）的患者来源的诱导多能干细胞系（TRNDi032-A），该细胞携带 JAG1 基因中的杂合突变（p.Cys682Leufs*7）。
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.
机构信息
National Center for Advancing Translational Sciences, National Institutes of Health, Bethesda, MD, USA.
iPSC Core, National Heart, Lung and Blood Institute, National Institutes of Health, Bethesda, MD, USA.
出版信息
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.
摘要
Alagille 综合征（ALGS）是一种常染色体显性遗传、多系统紊乱疾病，由 JAG1 基因（ALGS 型 1）或 NOTCH2 基因（ALGS 型 2）的单倍体不足引起。由于其多系统临床表现、变异性表达以及某些特征的产前发病，该疾病的诊断和治疗一直具有挑战性。该 iPSC 系（TRNDi032-A）携带 JAG1 基因中的杂合突变 p.Cys682Leufs*7（c.2044dup），这为研究该疾病和开发针对患者治疗的新型治疗方法提供了一种手段。
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