ID   GM04856
AC   CVCL_1I62
SY   GM04856B
DR   CLO; CLO_0018183
DR   Coriell; GM04856
DR   Wikidata; Q54838723
CC   Part of: Venezuelan Huntington disease kindreds subcollection.
CC   Sequence variation: Mutation; HGNC; HGNC:4851; HTT; Repeat_expansion; p.Gln18[40] (c.52CAG(40)) (c.52CAG[(40_?)]); ClinVar=VCV000000409; Zygosity=Heterozygous (from autologous cell line GM04857).
CC   Sequence variation: Mutation; HGNC; HGNC:4851; HTT; Repeat_expansion; p.Gln18[50] (c.52CAG(50)) (c.52CAG[(40_?)]); ClinVar=VCV000000409; Zygosity=Heterozygous (from autologous cell line GM04857).
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_1I63 ! GM04857
SX   Female
AG   23Y
CA   Transformed cell line
DT   Created: 08-07-15; Last updated: 19-12-24; Version: 13
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