ID   GM13506
AC   CVCL_1J73
DR   CLO; CLO_0012366
DR   Coriell; GM13506
DR   Wikidata; Q54846592
CC   Sequence variation: Mutation; HGNC; HGNC:4851; HTT; Repeat_expansion; p.Gln18[48] (c.52CAG(48)) (c.52CAG[(40_?)]); ClinVar=VCV000000409; Zygosity=Heterozygous (Coriell=GM13506).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
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)
SX   Male
AG   Age unspecified
CA   Transformed cell line
DT   Created: 08-07-15; Last updated: 19-12-24; Version: 12
//