ID   AKOSi003-A
AC   CVCL_YB82
SY   iPS F0101990-1; iPS 003-A
DR   hPSCreg; AKOSi003-A
DR   Wikidata; Q93324069
RX   PubMed=32028086;
CC   From: Albrecht-Kossel Institute for Neuroregeneration, University Medicine Rostock; Rostock; Germany.
CC   Sequence variation: Mutation; HGNC; 870; ATP7B; Simple; p.Met769Val (c.2305A>G); ClinVar=VCV000035706; Zygosity=Homozygous (PubMed=32028086).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C84756; Hepatolenticular degeneration
DI   ORDO; Orphanet_905; Wilson disease
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   Age unspecified
CA   Induced pluripotent stem cell
DT   Created: 19-12-19; Last updated: 29-06-23; Version: 9
//
RX   PubMed=32028086; DOI=10.1016/j.scr.2020.101708;
RA   Petters J., Cimmaruta C., Iwanov K., Chang M.L., Volkner C.,
RA   Knuebel G., Murua Escobar H., Frech M.J., Hermann A., Rolfs A.,
RA   Lukas J.;
RT   "Generation of induced pluripotent stem cell lines AKOSi002-A and
RT   AKOSi003-A from symptomatic female adults with Wilson disease.";
RL   Stem Cell Res. 43:101708-101708(2020).
//