ID   ICGi007-A
AC   CVCL_UJ80
SY   47Q-3Lf
DR   BioSamples; SAMEA5275258
DR   hPSCreg; ICGi007-A
DR   SKIP; SKIP005533
DR   Wikidata; Q94313418
RX   PubMed=30658253;
CC   From: The Federal Research Center Institute of Cytology and Genetics; Novosibirsk; Russia.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 4851; HTT; Repeat_expansion; p.Gln18[47] (c.52CAG(47)) (c.52CAG[(40_?)]); ClinVar=VCV000000409; Zygosity=Heterozygous (PubMed=30658253).
CC   Donor information: At sampling donor was not affected with Huntington disease but at significant risk (personal communication of Grigor'eva E.V. to hPSCreg).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C82342; Huntington's disease
DI   ORDO; Orphanet_399; Huntington disease
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   27Y
CA   Induced pluripotent stem cell
DT   Created: 25-02-19; Last updated: 30-01-24; Version: 11
//
RX   PubMed=30658253; DOI=10.1016/j.scr.2018.101382;
RA   Grigor'eva E.V., Malankhanova T.B., Surumbayeva A., Minina J.M.,
RA   Morozov V.V., Abramycheva N.Y., Illarioshkin S.N., Malakhova A.A.,
RA   Zakian S.M.;
RT   "Generation of induced pluripotent stem cell line, ICGi007-A, by
RT   reprogramming peripheral blood mononuclear cells from a patient with
RT   Huntington's disease.";
RL   Stem Cell Res. 34:101382-101382(2019).
//