ID   GM13509
AC   CVCL_1J76
DR   CLO; CLO_0012360
DR   Coriell; GM13509
DR   Wikidata; Q54846595
CC   Sequence variation: Mutation; HGNC; HGNC:4851; HTT; Repeat_expansion; p.Gln18[70] (c.52CAG(70)) (c.52CAG[(40_?)]); ClinVar=VCV000000409; Zygosity=Heterozygous (Coriell=GM13509).
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)
OI   CVCL_1J84 ! GM21756
SX   Female
AG   Age unspecified
CA   Transformed cell line
DT   Created: 08-07-15; Last updated: 19-12-24; Version: 13
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