ID   ICGi018-A
AC   CVCL_YK93
SY   iHD38Q-3
DR   BioSamples; SAMEA6438237
DR   hPSCreg; ICGi018-A
DR   SKIP; SKIP005696
DR   Wikidata; Q94313465
RX   PubMed=32179492;
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[38] (c.52CAG(38)) (c.52CAG[(36_39)]); ClinVar=VCV000031916; Zygosity=Heterozygous (PubMed=32179492).
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_YK94 ! ICGi018-B
OI   CVCL_YK95 ! ICGi018-C
SX   Female
AG   83Y
CA   Induced pluripotent stem cell
DT   Created: 19-12-19; Last updated: 29-06-23; Version: 7
//
RX   PubMed=32179492; DOI=10.1016/j.scr.2020.101743;
RA   Malakhova A.A., Grigor'eva E.V., Malankhanova T.B., Pavlova S.V.,
RA   Valetdinova K.R., Abramycheva N.Y., Vetchinova A.S.,
RA   Illarioshkin S.N., Zakian S.M.;
RT   "Generation of induced pluripotent stem cell line ICGi018-A from
RT   peripheral blood mononuclear cells of a patient with Huntington's
RT   disease.";
RL   Stem Cell Res. 44:101743-101743(2020).
//