ID   GWCMCi002-A
AC   CVCL_A4VC
SY   IPS79-1; iPS79
DR   BioSamples; SAMEA8050982
DR   hPSCreg; GWCMCi002-A
DR   Wikidata; Q107115207
RX   PubMed=34088015;
CC   From: Guangzhou Women and Children's Medical Center; Guangzhou; China.
CC   Population: Chinese; Han.
CC   Sequence variation: Mutation; HGNC; 2207; COL4A5; Simple; c.1517-1G>T; ClinVar=VCV000024421; Zygosity=Hemizygous; Note=Splice acceptor mutation (PubMed=34088015).
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   8Y
CA   Induced pluripotent stem cell
DT   Created: 20-05-21; Last updated: 29-06-23; Version: 4
//
RX   PubMed=34088015; DOI=10.1016/j.scr.2021.102388;
RA   Gao X., Li G.-Y., Deng H., Feng W.-D., Li Y., Liu M., Li Y.-J.;
RT   "Generation of an iPSC line (GWCMCi002-A) from an X-linked Alport
RT   syndrome patient with a hemizygous splicing mutation (NM_000495.4, c.
RT   1517-1 G > T) in the COL4A5 gene.";
RL   Stem Cell Res. 53:102388-102388(2021).
//