Establishment of an induced pluripotent stem cell line (NCKDi003-A) from a patient with X-linked Dent disease (X-Dent) carrying the hemizygote mutation p. T277P (c. 829A > C) in the CLCN5 gene

被引：2
|
作者：
Hu, Lidan [1 ]
Wang, Gang [3 ]
Wu, Hangdi [4 ]
Fu, Haidong [1 ]
Wang, Yan [4 ]
Yu, Fan [4 ]
Liu, Zhihong [2 ,3 ,4 ]
Mao, Jianhua [1 ]
机构：
[1] Zhejiang Univ, Natl Clin Res Ctr Child Hlth, Sch Med, Childrens Hosp, Hangzhou 310052, Peoples R China
[2] Zhejiang Univ, Med Ctr, Zhejiang Lab Syst & Precis Med, 1369 West Wenyi Rd, Hangzhou, Peoples R China
[3] Nanjing Univ, Jinling Hosp, Sch Med, Natl Clin Res Ctr Kidney Dis, Nanjing, Jiangsu, Peoples R China
[4] Zhejiang Univ, Sch Med, Hangzhou 310058, Zhejiang, Peoples R China
来源：
STEM CELL RESEARCH | 2021年 / 56卷
基金：
中国国家自然科学基金;
关键词：
D O I：
10.1016/j.scr.2021.102538
中图分类号：
Q813 [细胞工程];
学科分类号：
摘要：
Dent disease (DD) is a rare X-linked proximal tubulopathy associated with low molecular weight proteinuria (LMWP), hypercalciuria, nephrolithiasis and phosphoruria, which may progress to chronic kidney disease (CKD). About 60% of cases are caused by the mutation in CLCN5 gene. Recently, we identified a mutation in the sequence of homodimer of CLCN5 gene in a patient with DD. The Peripheral Blood Mononuclear Cells (PBMCs) of the patient were obtained and a line of induced pluripotent stem cells (iPSCs) was successfully generated. The iPSC line will be useful for further study of the pathogenesis and drug screening for DD.
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页数：4
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