ID   ICGi020-B
AC   CVCL_ZE01
SY   ATP7bIL24f
DR   BioSamples; SAMEA6983567
DR   hPSCreg; ICGi020-B
DR   Wikidata; Q98126762
RX   PubMed=32738633;
CC   From: The Federal Research Center Institute of Cytology and Genetics; Novosibirsk; Russia.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 870; ATP7B; Simple; p.His1069Gln (c.3207C>A); ClinVar=VCV000003848; Zygosity=Heterozygous (PubMed=32738633).
CC   Miscellaneous: While Wilson disease is autosomal recessive no other ATP7B mutation was found in the donor of this cell line.
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C84756; Hepatolenticular degeneration
DI   ORDO; Orphanet_905; Wilson disease
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_ZE00 ! ICGi020-A
SX   Male
AG   16Y
CA   Induced pluripotent stem cell
DT   Created: 02-07-20; Last updated: 29-06-23; Version: 5
//
RX   PubMed=32738633; DOI=10.1016/j.scr.2020.101922;
RA   Malakhova A.A., Grigor'eva E.V., Vasilyeva O.Y., Zhigalina D.I.,
RA   Skryabin N.A., Sivtcev A.A., Kolesnikov N.A., Bueverov A.O.,
RA   Lebedev I.N., Bogomolov P.O., Zakian S.M.;
RT   "Generation of two induced pluripotent stem cell lines from peripheral
RT   blood mononuclear cells of a patient with Wilson's disease.";
RL   Stem Cell Res. 47:101922-101922(2020).
//