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; 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: 19-12-24; Version: 10
//
RX   PubMed=32028086; DOI=10.1016/j.scr.2020.101708;
RA   Petters, Janine
RA   Cimmaruta, Chiara
RA   Iwanov, Katharina
RA   Chang, Matthew L.
RA   Volkner, Christin
RA   Knuebel, Gudrun
RA   Murua Escobar, Hugo
RA   Frech, Moritz J.
RA   Hermann, Andreas
RA   Rolfs, Arndt
RA   Lukas, Jan
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).
//