从两名携带杂合JAG1突变的阿拉吉综合征患者中生成诱导多能干细胞系TRNDi037 - A和TRNDi038 - A。

Generation of induced pluripotent stem cell lines TRNDi037-A and TRNDi038-A from two patients with Alagille syndrome carrying heterozygous JAG1 mutations.

作者信息

Evans Elena F, Chen Guibin, Pavlinov Ivan, Huang Xiuli, Linask Kaari, Liu Chengyu, Lopez Alexander Rodriguez, Gilbert Melissa A, Spinner Nancy B, Rodemse Steven, Baumgärtele Karsten, Chen Catherine Z, Zou Jizhong, Zheng Wei

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. 2025 Feb;82:103634. doi: 10.1016/j.scr.2024.103634. Epub 2024 Dec 17.

DOI:10.1016/j.scr.2024.103634

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11787771/

Abstract

Human induced pluripotent stem cell (iPSC) lines TRNDi037-A and TRNDi038-A were generated from the lymphoblastoid cell lines (LCL) of two patients with different heterozygous JAG1 variants resulting in Alagille syndrome (ALGS). ALGS is a rare genetic disease of haploinsufficiency that affects the formation of the bile duct, in addition to other symptoms. These ALGS iPSC lines can be used to model ALGS and aid in the identification of therapeutics to treat patients with ALGS.

摘要

人类诱导多能干细胞（iPSC）系TRNDi037 - A和TRNDi038 - A是从两名患有不同杂合JAG1变体导致阿拉吉耶综合征（ALGS）的患者的淋巴母细胞系（LCL）中产生的。ALGS是一种单倍体不足的罕见遗传病，除其他症状外，还会影响胆管的形成。这些ALGS iPSC系可用于模拟ALGS，并有助于鉴定治疗ALGS患者的疗法。

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