ID   ND50034
AC   CVCL_GP60
DR   NHCDR; ND50034
DR   SKIP; SKIP001569
DR   Wikidata; Q54930253
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:4851; HTT; Repeat_expansion; p.Gln18[109] (c.52CAG(109)) (c.52CAG[(40_?)]); ClinVar=VCV000000409; Zygosity=Heterozygous (from autologous cell lines ND42222; ND42223; ND42224).
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)
OI   CVCL_Y844 ! ND42222
OI   CVCL_1N95 ! ND42223
OI   CVCL_Y845 ! ND42224
OI   CVCL_RH33 ! ND50036
SX   Female
AG   9Y
CA   Induced pluripotent stem cell
DT   Created: 26-09-16; Last updated: 19-12-24; Version: 12
//