ID   ICGi018-B
AC   CVCL_YK94
SY   iHD38Q-2
DR   BioSamples; SAMEA6438550
DR   hPSCreg; ICGi018-B
DR   Wikidata; Q94313469
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[38] (c.52CAG(38)) (c.52CAG[(36_39)]); ClinVar=VCV000031916; Zygosity=Heterozygous (from autologous cell line ICGi018-A).
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_YK93 ! ICGi018-A
OI   CVCL_YK95 ! ICGi018-C
SX   Female
AG   83Y
CA   Induced pluripotent stem cell
DT   Created: 19-12-19; Last updated: 19-12-24; Version: 9
//