ID   SDQLCHi062-A
AC   CVCL_C9JM
DR   BioSamples; SAMEA114558317
DR   hPSCreg; SDQLCHi062-A
DR   Wikidata; Q123033472
RX   PubMed=38029557;
CC   From: Qilu Children's Hospital of Shandong University; Jinan; China.
CC   Population: Chinese; Han.
CC   Sequence variation: Mutation; HGNC; 8616; PAX2; Simple; p.Gly76Ser (c.226G>A); ClinVar=VCV000013799; Zygosity=Heterozygous (PubMed=38029557).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C202604; Focal segmental glomerulosclerosis 7
DI   ORDO; Orphanet_656; Genetic steroid-resistant nephrotic syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   13Y
CA   Induced pluripotent stem cell
DT   Created: 05-10-23; Last updated: 02-05-24; Version: 3
//
RX   PubMed=38029557; DOI=10.1016/j.scr.2023.103260;
RA   Yang X.-M., Zhang H.-X., Gao M., Lv Y.-Q., Song W., Duan C.-H., Liu Y.;
RT   "An induced pluripotent stem cell line (SDQLCHi062-A) from a patient
RT   carrying a mutation in the PAX2 gene.";
RL   Stem Cell Res. 73:103260-103260(2023).
//