ID   SDUBMSi008-A
AC   CVCL_A7GF
SY   COL4A5-WRD
DR   hPSCreg; SDUBMSi008-A
DR   Wikidata; Q107116904
RX   PubMed=33878711;
CC   From: School of Basic Medical Sciences, Shandong University; Jinan; China.
CC   Population: Chinese; Han.
CC   Sequence variation: Mutation; HGNC; 2207; COL4A5; Simple; p.Arg266Ter (c.796C>T); ClinVar=VCV000024325; Zygosity=Hemizygous (PubMed=33878711).
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   26Y
CA   Induced pluripotent stem cell
DT   Created: 20-05-21; Last updated: 29-06-23; Version: 4
//
RX   PubMed=33878711; DOI=10.1016/j.scr.2021.102343;
RA   Ma Y.-Y., Wang Z.-D., Gao M., Liu X.-L., Sun W.-J., Gong Y.-Q.,
RA   Sun G.-P., Liu G.-Y.;
RT   "Generation of two induced pluripotent stem cell lines from patients
RT   with X-linked Alport syndrome.";
RL   Stem Cell Res. 53:102343-102343(2021).
//