ID   ND36999
AC   CVCL_W577
SY   ND36999*F; HD 6
DR   Coriell; ND36999
DR   NHCDR; ND36999
DR   SKIP; SKIP001089
DR   SKIP; SKIP004701
DR   Wikidata; Q54930008
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:4851; HTT; Repeat_expansion; p.Gln18[179] (c.52CAG(179)) (c.52CAG[(40_?)]); ClinVar=VCV000000409; Zygosity=Heterozygous (NHCDR=ND36999).
CC   Discontinued: Coriell; ND36999; true.
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C82342; Huntington's disease
DI   ORDO; Orphanet_399; Huntington disease
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
HI   CVCL_W576 ! GM09197
SX   Male
AG   6Y
CA   Induced pluripotent stem cell
DT   Created: 16-04-14; Last updated: 19-12-24; Version: 18
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