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


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. Copyright © 2021 The Author(s). Published by Elsevier B.V. All rights reserved.

Authors Hu L, Wang G, Wu H, Fu H, Wang Y, Yu F, Liu Z, Mao J
Journal Stem cell research
Publication Date 2021 Oct;56:102538
PubMed 34547705
DOI 10.1016/j.scr.2021.102538

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