Establishment of an induced pluripotent stem cell line (WMUi016-A) from a patient with X-linked Dent disease (X-Dent) carrying the hemizygote mutation p.R718* (c.2152C > T) in the CLCN5 gene


The gene mutations of the chloride channel gene (CLCN5) can lead to the inherited X-linked Dent disease (X-Dent). The urine cells of a 4-year-old male X-Dent patient with the hemizygous CLCN5 gene mutation p.R718* (c.2152C > T) were reprogrammed into induced pluripotent stem cells (iPSCs) using integration free Sendai virus reprogramming system. The generated iPSCs stably expressed pluripotent stem cell markers and can be induced to differentiate into three germ layers in vitro. The karyotype of the generated iPSCs was normal (46, XY). Copyright © 2021 The Authors. Published by Elsevier B.V. All rights reserved.

Authors Chen H, Ding Y, Zhou W, Li J, Qian W, Zhang Z, Li C, Tong H, Rong X, Chu M, Chen C, Wang D, Guo X
Journal Stem cell research
Publication Date 2021 Mar;51:102209
PubMed 33545640
DOI 10.1016/j.scr.2021.102209

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