ID   ND38545
AC   CVCL_Y814
SY   ND38545*C
DR   Coriell; ND38545
DR   NHCDR; ND38545
DR   SKIP; SKIP001090
DR   SKIP; SKIP004703
DR   Wikidata; Q54930067
CC   Population: South American (Brazil, Guyana, Venezuela).
CC   Sequence variation: Mutation; HGNC; 4851; HTT; Repeat_expansion; p.Gln18[45] (c.52CAG(45)) (c.52CAG[(40_?)]); ClinVar=VCV000000409; Zygosity=Heterozygous (NHCDR=ND38545).
CC   Discontinued: Coriell; ND38545; 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_M952 ! GM04689
SX   Female
AG   30Y
CA   Induced pluripotent stem cell
DT   Created: 10-04-15; Last updated: 30-01-24; Version: 14
//