{Reference Type}: Journal Article
{Title}: An induced pluripotent stem cell line (SDQLCHi062-A) from a patient carrying a mutation in the PAX2 gene.
{Author}: Yang X;Zhang H;Gao M;Lv Y;Song W;Duan C;Liu Y;
{Journal}: Stem Cell Res
{Volume}: 73
{Issue}: 0
{Year}: 2023 12 23
{Factor}: 1.587
{DOI}: 10.1016/j.scr.2023.103260
{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.