ID   ZZUNEUi005-A
AC   CVCL_YB88
DR   BioSamples; SAMEA6712335
DR   hPSCreg; ZZUNEUi005-A
DR   Wikidata; Q98136715
RX   PubMed=32745714;
CC   From: Zhengzhou University First Affiliated Hospital; Zhengzhou; China.
CC   Population: Chinese; Han.
CC   Sequence variation: Mutation; HGNC; 870; ATP7B; Simple; p.Pro992Leu (c.2975C>T); ClinVar=VCV000188831; Zygosity=Homozygous (PubMed=32745714).
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   Male
AG   36Y
CA   Induced pluripotent stem cell
DT   Created: 19-12-19; Last updated: 29-06-23; Version: 7
//
RX   PubMed=32745714; DOI=10.1016/j.scr.2020.101909;
RA   Wei L.-T., Zhang J.-W., Chen D.-B., Feng L., Wu C., Wang R., Li X.-H.;
RT   "Generation of an integration-free induced pluripotent stem cell
RT   (iPSC) line (ZZUNEUi005-A) from a Wilson's disease patient harboring a
RT   homozygous Pro992Leu mutation in ATP7B gene.";
RL   Stem Cell Res. 47:101909-101909(2020).
//