Generation of an urine-derived induced pluripotent stem cell line WMUi017-A from a X-linked Renpenning syndrome (X-RSY) patient with the hemizygous PQBP1 gene mutation p.P609A (c.1825C>G)

被引：3
|
作者：
Guo, Xiaoling [1 ,2 ,3 ]
Zhang, Xufei [1 ,2 ,3 ]
Wang, Linlin [1 ,2 ,3 ]
He, Lingyun [1 ,2 ,4 ]
Ding, Yinjuan [1 ,2 ,3 ]
Chen, Huihui [1 ,2 ,3 ]
Wang, Dexuan [1 ,2 ,3 ]
Rong, Xing [1 ,2 ,3 ]
Shen, Xian [1 ,2 ,4 ]
Lin, Jian [1 ,2 ,5 ]
Chu, Maoping [1 ,2 ,3 ]
机构：
[1] Wenzhou Med Univ, Ctr Sci Res, Affiliated Hosp 2, 109 Xueyuan West Rd, Wenzhou 325027, Zhejiang, Peoples R China
[2] Wenzhou Med Univ, Yuying Childrens Hosp, 109 Xueyuan West Rd, Wenzhou 325027, Zhejiang, Peoples R China
[3] Wenzhou Med Univ, Dept Pediat, Affiliated Hosp 2, Wenzhou, Zhejiang, Peoples R China
[4] Wenzhou Med Univ, Dept Gastrointestinal Surg, Affiliated Hosp 2, Wenzhou, Zhejiang, Peoples R China
[5] Wenzhou Med Univ, Dept Neurosurg, Affiliated Hosp 2, Wenzhou, Zhejiang, Peoples R China
来源：
STEM CELL RESEARCH | 2021年 / 51卷
关键词：
D O I：
10.1016/j.scr.2021.102159
中图分类号：
Q813 [细胞工程];
学科分类号：
摘要：
The mutations of polyglutamine binding protein 1 gene (PQBP1) can lead to the rare inherited X-linked Renpenning syndrome (X-RSY). Here, an induced pluripotent stem cell (iPSC) line WMUi017-A was generated through reprogramming the urine cells of a 5-year-old male X-RSY patient with the hemizygous PQBP1 gene mutation p.P609A (c.1825C>G) using the commercial Sendai virus reprogramming system. The established iPSCs can stably express pluripotent stem cell markers OCT4 and NANOG, and can be induced into three germ layers and maintain a normal karyotype (46, XY) in vitro.
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页数：4
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