生成携带 JAGGED-1 基因剪接位点杂合突变（Chr20: 10,629,709C>A）的 Alagille 综合征诱导多能干细胞系，突变位于外显子 11 之前。
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.
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. 2021 May;53:102366. doi: 10.1016/j.scr.2021.102366. Epub 2021 Apr 27.
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.
Alagille 综合征（ALGS）是一种多系统常染色体显性遗传疾病，由 Notch 信号通路的缺陷引起，包括 Jagged1（JAG1）（ALGS 型 1）或 Notch2（ALGS 型 2）的突变。从一位 3 个月大的具有 JAG1 剪接位点杂合突变（Chr20：10,629,709C>A）的患者的真皮成纤维细胞中生成了诱导多能干细胞（iPSC）系。该 iPSC 模型为疾病建模提供了有用的资源，可用于研究疾病发病机制并开发用于治疗 ALGS 的治疗方法。
Zotero 插件