ID   GM05538
AC   CVCL_1I94
DR   Coriell; GM05538
DR   Wikidata; Q54839045
CC   Part of: Venezuelan Huntington disease kindreds subcollection.
CC   Sequence variation: Mutation; HGNC; 4851; HTT; Repeat_expansion; p.Gln18[97] (c.52CAG(97)) (c.52CAG[(40_?)]); ClinVar=VCV000000409; Zygosity=Heterozygous (from autologous cell line GM05539).
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_1I95 ! GM05539
SX   Male
AG   10Y
CA   Transformed cell line
DT   Created: 08-07-15; Last updated: 29-06-23; Version: 11
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