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

Weiping Ji; Dexuan Wang; Congde Chen; Huihui Chen; Yinjuan Ding; Chao Li; Xing Rong; Xiaoou Shan; Maoping Chu; Xian Shen; Xiaoling Guo

doi:10.1016/j.scr.2021.102228

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

Stem Cell Res. 2021 Apr:52:102228. doi: 10.1016/j.scr.2021.102228. Epub 2021 Feb 10.

Authors

Weiping Ji¹, Dexuan Wang², Congde Chen², Huihui Chen², Yinjuan Ding², Chao Li², Xing Rong², Xiaoou Shan³, Maoping Chu⁴, Xian Shen⁵, Xiaoling Guo⁶

Affiliations

¹ Center of Scientific Research, The Second Affiliated Hospital and Yuying Children's Hospital of Wenzhou Medical University, Wenzhou, Zhejiang, China; Department of General Surgery, The Second Affiliated Hospital and Yuying Children's Hospital of Wenzhou Medical University, Wenzhou, Zhejiang, China.
² Center of Scientific Research, The Second Affiliated Hospital and Yuying Children's Hospital of Wenzhou Medical University, Wenzhou, Zhejiang, China; Department of Pediatrics, The Second Affiliated Hospital and Yuying Children's Hospital of Wenzhou Medical University, Wenzhou, China.
³ Department of Pediatric Endocrine Genetics and Metabolism, The Second Affiliated Hospital and Yuying Children's Hospital of Wenzhou Medical University, Wenzhou, Zhejiang, China.
⁴ Center of Scientific Research, The Second Affiliated Hospital and Yuying Children's Hospital of Wenzhou Medical University, Wenzhou, Zhejiang, China; Department of Pediatrics, The Second Affiliated Hospital and Yuying Children's Hospital of Wenzhou Medical University, Wenzhou, China. Electronic address: [email protected].
⁵ Center of Scientific Research, The Second Affiliated Hospital and Yuying Children's Hospital of Wenzhou Medical University, Wenzhou, Zhejiang, China; Department of General Surgery, The Second Affiliated Hospital and Yuying Children's Hospital of Wenzhou Medical University, Wenzhou, Zhejiang, China. Electronic address: [email protected].
⁶ Center of Scientific Research, The Second Affiliated Hospital and Yuying Children's Hospital of Wenzhou Medical University, Wenzhou, Zhejiang, China; Department of Pediatrics, The Second Affiliated Hospital and Yuying Children's Hospital of Wenzhou Medical University, Wenzhou, China. Electronic address: [email protected].

PMID: 33607471
DOI: 10.1016/j.scr.2021.102228

Abstract

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).

Publication types

Case Reports
Research Support, Non-U.S. Gov't

MeSH terms

Bartter Syndrome*
Cell Differentiation
Child, Preschool
Female
Homozygote
Humans
Induced Pluripotent Stem Cells*
Mutation / genetics
Sendai virus
Solute Carrier Family 12, Member 1

Substances

SLC12A1 protein, human
Solute Carrier Family 12, Member 1