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Cellosaurus SDQLCHi062-A (CVCL_C9JM)

[Text version]
Cell line name SDQLCHi062-A
Accession CVCL_C9JM
Resource Identification Initiative To cite this cell line use: SDQLCHi062-A (RRID:CVCL_C9JM)
Comments From: Qilu Children's Hospital of Shandong University; Jinan; China.
Population: Chinese; Han.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; 8616; PAX2; Simple; p.Gly76Ser (c.226G>A); ClinVar=VCV000013799; Zygosity=Heterozygous (PubMed=38029557).
Disease Focal segmental glomerulosclerosis 7 (NCIt: C202604)
Genetic steroid-resistant nephrotic syndrome (ORDO: Orphanet_656)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 13Y
Category Induced pluripotent stem cell
Publications

PubMed=38029557; DOI=10.1016/j.scr.2023.103260
Yang X.-M., Zhang H.-X., Gao M., Lv Y.-Q., Song W., Duan C.-H., Liu Y.
An induced pluripotent stem cell line (SDQLCHi062-A) from a patient carrying a mutation in the PAX2 gene.
Stem Cell Res. 73:103260-103260(2023)

Cross-references
Cell line databases/resources hPSCreg; SDQLCHi062-A
Biological sample resources BioSamples; SAMEA114558317
Encyclopedic resources Wikidata; Q123033472
Entry history
Entry creation05-Oct-2023
Last entry update02-May-2024
Version number3