ID   NCKDi004-A
AC   CVCL_B5IU
SY   NCKD-iPS-AS-COL4A3-004
DR   hPSCreg; NCKDi004-A
DR   Wikidata; Q110433093
RX   PubMed=34626894;
CC   From: National Center of Kidney Diseases; Nanjing; China.
CC   Population: Chinese; Han.
CC   Sequence variation: Mutation; HGNC; HGNC:2204; COL4A3; Simple; p.Met1Ile (c.3G>A); Zygosity=Homozygous (PubMed=34626894).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C34842; Alport syndrome
DI   ORDO; Orphanet_63; Alport syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   17Y
CA   Induced pluripotent stem cell
DT   Created: 16-12-21; Last updated: 19-12-24; Version: 5
//
RX   PubMed=34626894; DOI=10.1016/j.scr.2021.102557;
RA   Wu H.-D., Wang G., Gao E.-Z., Zhang L., Zhu Y.-Q., Zhang J., Liu Z.-H.;
RT   "Generation of the induced pluripotent stem cell line (NCKDi004-A)
RT   from a 17-year-old patient with Alport syndrome carrying a homozygous
RT   mutation in COL4A3 gene.";
RL   Stem Cell Res. 56:102557-102557(2021).
//