ID   SDUBMSi006-A
AC   CVCL_A7GD
SY   COL4A3-WB
DR   hPSCreg; SDUBMSi006-A
DR   Wikidata; Q107116902
RX   PubMed=33601099;
CC   From: School of Basic Medical Sciences, Shandong University; Jinan; China.
CC   Population: Chinese; Han.
CC   Sequence variation: Mutation; HGNC; 2204; COL4A3; Simple; p.Gly1406Arg (c.4216G>A); Zygosity=Heterozygous (PubMed=33601099).
CC   Sequence variation: Mutation; HGNC; 2204; COL4A3; Simple; p.Gly1415Arg (c.4243G>A); Zygosity=Heterozygous (PubMed=33601099).
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   Female
AG   26Y
CA   Induced pluripotent stem cell
DT   Created: 20-05-21; Last updated: 29-06-23; Version: 4
//
RX   PubMed=33601099; DOI=10.1016/j.scr.2021.102237;
RA   Ma Y.-Y., Wang Z.-D., Liu X.-L., Sun W.-J., Gong Y.-Q., Liu G.-Y.,
RA   Sun G.-P.;
RT   "Generation and characterization of an integration-free iPSC line
RT   SDUBMSi006-A from a patient with Alport syndrome caused by COL4A3 gene
RT   mutations.";
RL   Stem Cell Res. 52:102237-102237(2021).
//