ID   ZZUNEUi003-A
AC   CVCL_YB86
DR   BioSamples; SAMEA6145610
DR   hPSCreg; ZZUNEUi003-A
DR   SKIP; SKIP005583
DR   Wikidata; Q98136708
RX   PubMed=31783295;
CC   From: The First Affiliated Hospital of Zhengzhou University; Zhengzhou; China.
CC   Population: Chinese; Han.
CC   Sequence variation: Mutation; HGNC; HGNC:870; ATP7B; Simple; p.Arg778Leu (c.2333G>T); ClinVar=VCV000003852; Zygosity=Homozygous (PubMed=31783295).
CC   Derived from site: In situ; Urine; UBERON=UBERON_0001088.
DI   NCIt; C84756; Hepatolenticular degeneration
DI   ORDO; Orphanet_905; Wilson disease
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   32Y
CA   Induced pluripotent stem cell
DT   Created: 19-12-19; Last updated: 14-08-25; Version: 10
//
RX   PubMed=31783295; DOI=10.1016/j.scr.2019.101664;
RA   Zhang, Ji-Wei
RA   Wei, Li-Ting
RA   Chen, Ding-Bang
RA   Feng, Li
RA   Wu, Chao
RA   Wang, Rui
RA   Li, Xun-Hua
RT   "Generation of an integration-free induced pluripotent stem cell
RT   (iPSC) line (ZZUNEUi003-A) from a Wilson's disease patient harboring a
RT   homozygous R778L mutation in ATP7B gene.";
RL   Stem Cell Res. 41:101664-101664(2019).
//