ID   ICGi033-A
AC   CVCL_B3RX
SY   77Q-17
DR   BioSamples; SAMEA10329920
DR   hPSCreg; ICGi033-A
DR   Wikidata; Q110432906
RX   PubMed=35872525;
CC   From: The Federal Research Center Institute of Cytology and Genetics; Novosibirsk; Russia.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:4851; HTT; Repeat_expansion; p.Gln18[77] (c.52CAG(46)) (c.52CAG[(40_?)]); ClinVar=VCV000000409; Zygosity=Heterozygous (PubMed=35872525).
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)
OI   CVCL_C0PM ! ICGi033-B
OI   CVCL_C0PN ! ICGi033-C
SX   Male
AG   19Y
CA   Induced pluripotent stem cell
DT   Created: 16-12-21; Last updated: 19-12-24; Version: 7
//
RX   PubMed=35872525; DOI=10.1016/j.scr.2022.102868;
RA   Grigor'eva E.V., Malakhova A.A., Sorogina D.A., Pavlova S.V.,
RA   Malankhanova T.B., Abramycheva N.Y., Klyushnikov S.A.,
RA   Illarioshkin S.N., Zakian S.M.;
RT   "Generation of induced pluripotent stem cell line, ICGi033-A, by
RT   reprogramming peripheral blood mononuclear cells from a patient with
RT   Huntington's disease.";
RL   Stem Cell Res. 63:102868-102868(2022).
//