ID   ND36998
AC   CVCL_Y807
SY   ND36998*G; HD 29
DR   Coriell; ND36998
DR   NHCDR; ND36998
DR   SKIP; SKIP001088
DR   SKIP; SKIP004700
DR   Wikidata; Q54930007
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 4851; HTT; Repeat_expansion; p.Gln18[60] (c.52CAG(60)) (c.52CAG[(40_?)]); ClinVar=VCV000000409; Zygosity=Heterozygous (NHCDR=ND36998).
CC   Discontinued: Coriell; ND36998; 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_F063 ! GM03621
SX   Female
AG   29Y
CA   Induced pluripotent stem cell
DT   Created: 10-04-15; Last updated: 30-01-24; Version: 15
//