Generation of an induced pluripotent stem cell line from a Bartter syndrome patient with the homozygote mutation p.A244D (c.731C>A) in SLC12A1 gene


Bartter Syndrome (BS) is a group of rare inherited autosome-recessive disease, which can be caused by the gene mutations of sodium-potassium-chloride cotransporter gene (SLC12A1). Here, the urine cells (UCs) derived from a 4-year-old female BS patient with the homozygote SLC12A1 gene mutation p.A244D (c.731C>A) were reprogramming into induced pluripotent stem cells (iPSCs) named WMUi019-A using a commercial Sendai virus reprogramming kit. The pluripotent stem cell markers like OCT4 and SSEA4 can be positively expressed in this iPSC line, which can also be induced to differentiate into three germ layers in vitro and maintain a stable karyotype (46, XY). Copyright © 2021 The Author(s). Published by Elsevier B.V. All rights reserved.

Authors Ji W, Wang D, Chen C, Chen H, Ding Y, Li C, Rong X, Shan X, Chu M, Shen X, Guo X
Journal Stem cell research
Publication Date 2021 Apr;52:102228
PubMed 33607471
DOI 10.1016/j.scr.2021.102228

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