ID   AKOSi002-A
AC   CVCL_YB81
SY   iPS GM05257-11; iPS 002-A
DR   hPSCreg; AKOSi002-A
DR   Wikidata; Q93324067
RX   PubMed=32028086;
CC   From: Albrecht-Kossel Institute for Neuroregeneration, University Medicine Rostock; Rostock; Germany.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 870; ATP7B; Simple; p.Glu1064Ala (c.3191A>C); ClinVar=VCV000370081; Zygosity=Heterozygous (PubMed=32028086).
CC   Sequence variation: Mutation; HGNC; 870; ATP7B; Simple; p.His1069Gln (c.3207C>A); ClinVar=VCV000003848; Zygosity=Heterozygous (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)
HI   CVCL_0P48 ! GM05257
SX   Female
AG   34Y
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).
//