Establishment of a human induced pluripotent stem cell line (SDQLCHi037-A) from a patient with Alagille syndrome carrying heterozygous mutation in JAG1 gene

被引：2
|
作者：
Wang, Bin [1 ]
Yang, Lu [2 ]
Li, Yue [1 ]
Gao, Min [1 ]
Zhang, Haiyan [1 ]
Yang, Xiaomeng [1 ]
Guan, Jingyun [1 ]
Liu, Yi [1 ]
Gai, Zhongtao [1 ]
机构：
[1] Shandong Univ, Pediat Res Inst, Qilu Childrens Hosp, Jinan 250022, Shandong, Peoples R China
[2] Shandong Univ, Digest Dept, Qilu Childrens Hosp, Jinan 250022, Shandong, Peoples R China
来源：
STEM CELL RESEARCH | 2021年 / 51卷
基金：
中国国家自然科学基金;
关键词：
D O I：
10.1016/j.scr.2021.102162
中图分类号：
Q813 [细胞工程];
学科分类号：
摘要：
Alagille syndrome is a complex multisystem autosomal dominant disorder that is caused by a defect in the Notch signaling pathway. We established an induced pluripotent stem cell (iPSC) line from peripheral blood mononuclear cells of a 3-month-old boy with Alagille syndrome carrying a heterozygous mutation c.1615C > T (p.Q539X) in JAG1 gene. This iPSC line was free of exogenous gene, expressed pluripotency markers, had normal karyotype, exhibited differentiation potential and harbored the same mutations found in the patient. This iPSC line offers a cell-based model for drug screening studies.
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页数：4
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