Generation of an induced pluripotent stem cell line (TRNDi031-A) from a patient with Alagille syndrome type 1 carrying a heterozygous p. C312X (c. 936 T>A) mutation in JAGGED-1

被引：2
|
作者：
Brooks, Brianna M. [1 ]
Pradhan, Manisha [1 ]
Cheng, Yu-Shan [1 ]
Gorshkov, Kirill [1 ]
Farkhondeh, Atena [1 ]
Chen, Catherine Z. [1 ]
Beers, Jeanette [2 ]
Liu, Chengyu [3 ]
Baumgaertel, Karsten [4 ]
Rodems, Steven [4 ]
Zheng, Wei [1 ]
机构：
[1] Natl Ctr Adv Translat Sci, NIH, 9800 Med Ctr Dr, Bethesda, MD 20892 USA
[2] NHLBI, iPSC Core, NIH, Bldg 10, Bethesda, MD 20892 USA
[3] NHLBI, Transgen Core, NIH, Bldg 10, Bethesda, MD 20892 USA
[4] Travere Therapeut, San Diego, CA USA
来源：
STEM CELL RESEARCH | 2021年 / 54卷
基金：
美国国家卫生研究院;
关键词：
D O I：
10.1016/j.scr.2021.102447
中图分类号：
Q813 [细胞工程];
学科分类号：
摘要：
Alagille syndrome (ALGS) is a rare autosomal dominant disorder caused by disruption of the Notch signaling pathway due to mutations in either JAGGED1 (JAG1) (ALGS type 1) or NOTCH2 (ALGS type 2). Loss of this signaling interferes with the development of many organs, but especially the liver. A human induced pluripotent stem cell (iPSC) line was generated from the fibroblasts of a patient with a p. C312X (c. 936 T > A) variant in JAG1. This iPSC line offers a valuable resource to study the disease pathophysiology and develop therapeutics to treat patients with ALGS.
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页数：5
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