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PMID: 38029557 Published · ppublish English

An induced pluripotent stem cell line (SDQLCHi062-A) from a patient carrying a mutation in the PAX2 gene.

Stem cell research ·Vol. 73 ·2023-00-00

Yang X, Zhang H, Gao M, Lv Y, Song W, Duan C, Liu Y

Abstract

Focal segmental glomerulosclerosis 7 (FSGS7, # 616002) is a condition marked by significant proteinuria with or without features of nephrotic syndrome. Heterozygous mutations in the PAX2 gene on chromosome 10q24 can cause FSGS7. Here, we generated an induced pluripotent stem cell line SDQLCHi062-A from a thirteen -years-old boy with FSGS7 caused by heterozygous mutation (c.226 G>A, p.G76S) in the PAX2 gene (OMIM * 167409). The established iPSC line was validated by pluripotency markers expression, original gene mutation and demonstrated trilineage differentiation potential in vitro.

Article Info
Journal
Stem cell research
Abbr.
Stem Cell Res
ISSN
1876-7753
Published
2023-00-00
Language
English
Country/Region
England
NLM ID
101316957
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