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.

引用

页数：4

共 36 条

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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 &gt; C) in the CLCN5 gene

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