ID   THSJTUi001-A
AC   CVCL_A1XC
SY   LZH-C3
DR   hPSCreg; THSJTUi001-A
DR   Wikidata; Q105511206
RX   PubMed=33096383;
CC   Population: Chinese; Han.
CC   Sequence variation: Mutation; HGNC; 870; ATP7B; Simple; p.Arg778Leu (c.2333G>T); ClinVar=VCV000003852; Zygosity=Homozygous (PubMed=33096383).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C84756; Hepatolenticular degeneration
DI   ORDO; Orphanet_905; Wilson disease
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   26Y
CA   Induced pluripotent stem cell
DT   Created: 12-01-21; Last updated: 29-06-23; Version: 4
//
RX   PubMed=33096383; DOI=10.1016/j.scr.2020.102050;
RA   Wang S.-H., Wang X.-P.;
RT   "Generation of an induced pluripotent stem cell (iPSC) line
RT   (THSJTUi001-A) from a Wilson's disease patient harboring a homozygous
RT   Arg778Leu mutation in ATP7B gene.";
RL   Stem Cell Res. 49:102050-102050(2020).
//