ID   NCKDi001-A
AC   CVCL_A1WM
SY   NCKD-iPS-Alport-COL4A5-001; NCKD-iPS-AS-COL4A5-001
DR   hPSCreg; NCKDi001-A
DR   Wikidata; Q105510327
RX   PubMed=33128955;
CC   From: National Center of Kidney Diseases; Nanjing; China.
CC   Population: Chinese; Han.
CC   Sequence variation: Mutation; HGNC; 2207; COL4A5; Simple; p.Gly896Ala (c.2687G>C); Zygosity=Hemizygous (PubMed=33128955).
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   19Y
CA   Induced pluripotent stem cell
DT   Created: 12-01-21; Last updated: 29-06-23; Version: 5
//
RX   PubMed=33128955; DOI=10.1016/j.scr.2020.102023;
RA   Wang G., Wu H.-D., Gao E.-Z., Zhang L., Chen L., Zhu Y.-Q.,
RA   Zhang J., Liu Z.-H.;
RT   "Generation of induced pluripotent stem cell line (NCKDi001-A) from a
RT   19-year-old patient with a novel COL4A5 gene mutation in Alport
RT   syndrome.";
RL   Stem Cell Res. 49:102023-102023(2020).
//