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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 research - 1 Apr 2021

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

Abstract excerpt

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...

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

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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.PMID 33607471Read ↗

Establishment of an induced pluripotent stem cell line from a Antley-Bixler Syndrome (ABS) patient with the homozygote mutation p.R457H (c.1370G>A) in POR gene.Semantic proximity Read ↗

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

Establishment of a human induced pluripotent stem cell line (WMUi031-A) from a Lowe syndrome patient carrying a OCRL gene mutation (c.2626dupA).Semantic proximity Read ↗

Establishment of an induced pluripotent stem cell line from a Noonan syndrome patient with the heterozygote mutation p.S257L (c.770C > T) in RAF1 gene.Semantic proximity Read ↗

An induced pluripotent stem cell line (MUSIi019-A) generated from a patient with distal renal tubular acidosis carrying a compound heterozygous mutation in solute carrier family 4 member 1 (SLC4A1) gene.Semantic proximity Read ↗

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Generation of an urine-derived induced pluripotent stem cell line WMUi017-A from a X-linked Renpenning syndrome (X-RSY) patient with the hemizygous PQBP1 gene mutation p.P609A (c.1825C>G).Semantic proximity Read ↗

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Generation of an iPSC line (HUSTi002-A) from fibroblasts of a patient with Sertoli cell-only syndrome carrying c.731_732delAT in PIWIL2 gene.Semantic proximity Read ↗

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