ID   ND38551
AC   CVCL_Y819
DR   Coriell; ND38551
DR   NHCDR; ND38551
DR   SKIP; SKIP001093
DR   SKIP; SKIP004708
DR   Wikidata; Q54930072
CC   Sequence variation: Mutation; HGNC; 4851; HTT; Repeat_expansion; p.Gln18[50] (c.52CAG(50)) (c.52CAG[(40_?)]); ClinVar=VCV000000409; Zygosity=Heterozygous (NHCDR=ND38551).
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_Y859 ! GM04287
SX   Male
AG   43Y
CA   Induced pluripotent stem cell
DT   Created: 10-04-15; Last updated: 30-01-24; Version: 14
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