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Updated: Jul 9, 2025

Establishment of Genome-edited Human Pluripotent Stem Cell Lines: From Targeting to Isolation
Published on: February 2, 2016
An induced pluripotent stem cell line (SDQLCHi062-A) from a patient carrying a mutation in the PAX2 gene
Xiaomeng Yang1, Hongxia Zhang2, Min Gao1
1Pediatric Research Institute, Children's Hospital Affiliated to Shandong University (Jinan Children's Hospital), Jinan 250022, China; Shandong Provincial Clinical Research Center for Children's Health and Disease, Jinan 250022, China.
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.
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