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

dc.contributor.authorXiaomeng Yang
dc.contributor.authorHongxia Zhang
dc.contributor.authorMin Gao
dc.contributor.authorYuqiang Lv
dc.contributor.authorWei Song
dc.contributor.authorChunhong Duan
dc.contributor.authorYi Liu
dc.contributor.otherPediatric 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
dc.contributor.otherDepartment of Pediatrics, Children’s Hospital Affiliated to Shandong University(Jinan Children’s Hospital), Jinan 250022, China
dc.contributor.otherPediatric 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
dc.contributor.otherPediatric 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
dc.contributor.otherTumor Minimally Invasive Comprehensive Treatment Department, Shandong Provincial Hospital Affiliated to Shandong First Medical University, Jinan 250021, China
dc.contributor.otherDepartment of Pediatrics, Children’s Hospital Affiliated to Shandong University(Jinan Children’s Hospital), Jinan 250022, China; Corresponding authors at: Pediatric Research Institute, Children’s Hospital Affiliated to Shandong University (Jinan Children’s Hospital), Jinan 250022, China (Y. Liu).
dc.contributor.otherPediatric 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; Corresponding authors at: Pediatric Research Institute, Children’s Hospital Affiliated to Shandong University (Jinan Children’s Hospital), Jinan 250022, China (Y. Liu).
dc.date.accessioned2023-11-29T04:24:07Z
dc.date.accessioned2025-10-08T08:49:05Z
dc.date.available2025-10-08T08:49:05Z
dc.date.issued01-12-2023
dc.identifier.urihttp://digilib.fisipol.ugm.ac.id/repo/handle/15717717/37458
dc.description.abstractFocal 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.
dc.language.isoEN
dc.publisherElsevier
dc.subject.lccBiology (General)
dc.titleAn induced pluripotent stem cell line (SDQLCHi062-A) from a patient carrying a mutation in the PAX2 gene
dc.typeArticle
dc.description.doi10.1016/j.scr.2023.103260
dc.title.journalStem Cell Research
dc.identifier.oaioai:doaj.org/journal:839c98ff4f4d472bbc47ec7dfae39951


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