ID   GM21757
AC   CVCL_1J85
DR   CLO; CLO_0014924
DR   Coriell; GM21757
DR   Wikidata; Q54852125
CC   Sequence variation: Mutation; HGNC; HGNC:4851; HTT; Repeat_expansion; p.Gln18[66] (c.52CAG(66)) (c.52CAG[(40_?)]); ClinVar=VCV000000409; Zygosity=Heterozygous (from autologous cell line GM13515).
CC   Cell type: Fibroblast; CL=CL_0000057.
DI   NCIt; C82342; Huntington's disease
DI   ORDO; Orphanet_399; Huntington disease
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_1J82 ! GM13515
SX   Male
AG   Age unspecified
CA   Finite cell line
DT   Created: 08-07-15; Last updated: 19-12-24; Version: 12
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