ID   NCKDi005-A
AC   CVCL_B5IV
SY   NCKD-iPS-AS-COL4A4-005
DR   hPSCreg; NCKDi005-A
DR   Wikidata; Q110433094
RX   PubMed=34942480;
CC   From: National Center of Kidney Diseases; Nanjing; China.
CC   Population: Chinese; Han.
CC   Sequence variation: Mutation; HGNC; 2206; COL4A4; Simple; p.Gly408Cysfs*29 (c.1221_1222insTGCAGGCATGATAGGACCCCCT); Zygosity=Homozygous (PubMed=34942480).
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   25Y
CA   Induced pluripotent stem cell
DT   Created: 16-12-21; Last updated: 29-06-23; Version: 4
//
RX   PubMed=34942480; DOI=10.1016/j.scr.2021.102628;
RA   Wang G., Gao E.-Z., Wu H.-D., Zhang L., Zhu Y.-Q., Zhang J., Liu Z.-H.;
RT   "Establishment of the induced pluripotent stem cell line (NCKDi005-A)
RT   from a male patient with Alport syndrome carrying a homozygous
RT   frameshift mutation in the COL4A4 gene.";
RL   Stem Cell Res. 58:102628-102628(2022).
//