ID   HQ01808
AC   CVCL_3S77
DR   Coriell; HQ01808
DR   Wikidata; Q54893844
CC   Sequence variation: Mutation; HGNC; HGNC:4851; HTT; Repeat_expansion; p.Gln18[43] (c.52CAG(43)) (c.52CAG[(40_?)]); ClinVar=VCV000000409; Zygosity=Heterozygous (from autologous cell line ND30013).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Caution: Patient indicated as not affected with HD in HQ01808, but as affected in ND30013.
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_Y899 ! ND30013
SX   Male
CA   Transformed cell line
DT   Created: 22-09-15; Last updated: 19-12-24; Version: 12
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