ID   ICGi033-B
AC   CVCL_C0PM
SY   77Q-9
DR   BioSamples; SAMEA20004557
DR   hPSCreg; ICGi033-B
DR   Wikidata; Q112929834
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[77] (c.52CAG(46)) (c.52CAG[(40_?)]); ClinVar=VCV000000409; Zygosity=Heterozygous (from autologous cell line ICGi033-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_B3RX ! ICGi033-A
OI   CVCL_C0PN ! ICGi033-C
SX   Male
AG   19Y
CA   Induced pluripotent stem cell
DT   Created: 23-06-22; Last updated: 29-06-23; Version: 5
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