ID   ZZUNEUi004-A
AC   CVCL_YB87
DR   BioSamples; SAMEA6154496
DR   hPSCreg; ZZUNEUi004-A
DR   SKIP; SKIP005793
DR   Wikidata; Q98136711
RX   PubMed=32113134;
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=32113134).
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   34Y
CA   Induced pluripotent stem cell
DT   Created: 19-12-19; Last updated: 29-06-23; Version: 8
//
RX   PubMed=32113134; DOI=10.1016/j.scr.2020.101741;
RA   Zhang J.-W., Wei L.-T., Chen D.-B., Feng L., Wu C., Wang R., Li X.-H.,
RA   Liu H.-B.;
RT   "Generation of an integration-free induced pluripotent stem cell
RT   (iPSC) line (ZZUNEUi004-A) from a Wilson's disease patient harboring a
RT   homozygous Pro992Leu mutation in ATP7B gene.";
RL   Stem Cell Res. 44:101741-101741(2020).
//