Cellosaurus cell line SDQLCHi062-A (CVCL

Cross-references
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; 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)
Cell line databases/resources	hPSCreg; SDQLCHi062-A
Biological sample resources	BioSamples; SAMEA114558317
Encyclopedic resources	Wikidata; Q123033472
Entry history
Entry creation	05-Oct-2023
Last entry update	19-Dec-2024
Version number	4