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

IF 0.8 4区 医学 Q4 BIOTECHNOLOGY & APPLIED MICROBIOLOGY Stem cell research Pub Date : 2025-02-01 DOI:10.1016/j.scr.2024.103634
Elena F. Evans , Guibin Chen , Ivan Pavlinov , Xiuli Huang , Kaari Linask , Chengyu Liu , Alexander Rodriguez Lopez , Melissa A. Gilbert , Nancy B. Spinner , Steven Rodemse , Karsten Baumgärtele , Catherine Z. Chen , Jizhong Zou , Wei Zheng
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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.
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2例携带杂合JAG1突变的Alagille综合征患者诱导多能干细胞株TRNDi037-A和TRNDi038-A的产生
人类诱导多能干细胞(iPSC)系TRNDi037-A和TRNDi038-A是由两名不同杂合JAG1变异导致Alagille综合征(ALGS)的患者的淋巴母细胞样细胞系(LCL)产生的。ALGS是一种罕见的单倍功能不全的遗传性疾病,除了其他症状外,还会影响胆管的形成。这些ALGS iPSC细胞系可用于建立ALGS模型,并有助于确定治疗ALGS患者的治疗方法。
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来源期刊
Stem cell research
Stem cell research 生物-生物工程与应用微生物
CiteScore
2.20
自引率
8.30%
发文量
338
审稿时长
55 days
期刊介绍: Stem Cell Research is dedicated to publishing high-quality manuscripts focusing on the biology and applications of stem cell research. Submissions to Stem Cell Research, may cover all aspects of stem cells, including embryonic stem cells, tissue-specific stem cells, cancer stem cells, developmental studies, stem cell genomes, and translational research. Stem Cell Research publishes 6 issues a year.
期刊最新文献
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