Generation of a human induced pluripotent stem cell line (WMUi021-A) from a Gitelman syndrome patient carrying a SLC12A3 gene mutation (c.179C > T)


Gitelman Syndrome (GS) is an inherited autosome recessive disorder syndrome, which can be caused by the gene mutations of solute carrier family 12 member 3 gene (SLC12A3). In present study, the urine cells (UCs) of a 7-year-old male GS patient with the homozygote SLC12A3 gene mutation p.T60M (c.179C > T) were reprogrammed into induced pluripotent stem cells (iPSCs) named WMUi021-A through the commercial Sendai virus reprogramming kit. The pluripotent markers OCT4 and SOX2 can be expressed positively in WMUi021-A, which can be differentiated into three germ layers in vitro as well as maintain a stable karyotype (46, XY). Copyright © 2021. Published by Elsevier B.V.

Authors Guo X, Qian R, Shan X, Yang L, Chen H, Ding Y, Chen C, Chu M, Lin J, Wang D
Journal Stem cell research
Publication Date 2021 Mar 11;53:102280
PubMed 33735743
DOI 10.1016/j.scr.2021.102280

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