ID   AKOSi008-A
AC   CVCL_A1VW
SY   iPS D1-12; iPS 008-A
DR   hPSCreg; AKOSi008-A
DR   Wikidata; Q105506401
RX   PubMed=33197697;
CC   From: Albrecht-Kossel Institute for Neuroregeneration, University Medicine Rostock; Rostock; Germany.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 870; ATP7B; Simple; p.His1069Gln (c.3207C>A); ClinVar=VCV000003848; Zygosity=Homozygous (PubMed=33197697).
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   54Y
CA   Induced pluripotent stem cell
DT   Created: 12-01-21; Last updated: 29-06-23; Version: 5
//
RX   PubMed=33197697; DOI=10.1016/j.scr.2020.102079;
RA   Petters J., Volkner C., Krohn S., Murua Escobar H., Bullerdiek J.,
RA   Reuner U., Frech M.J., Hermann A., Lukas J.;
RT   "Generation of two induced pluripotent stem cell lines from a female
RT   adult homozygous for the Wilson disease associated ATP7B variant
RT   p.H1069Q (AKOSi008-A) and a healthy control (AKOSi009-A).";
RL   Stem Cell Res. 49:102079-102079(2020).
//