ID   ND42229
AC   CVCL_Y846
DR   Coriell; ND42229
DR   NHCDR; ND42229
DR   Wikidata; Q54930214
CC   Sequence variation: Mutation; HGNC; HGNC:4851; HTT; Repeat_expansion; p.Gln18[71] (c.52CAG(71)) (c.52CAG[(40_?)]); ClinVar=VCV000000409; Zygosity=Heterozygous (from parent cell line).
CC   Discontinued: Coriell; ND42229; true.
CC   Discontinued: NHCDR; ND42229; 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_8519 ! GM04281
SX   Female
AG   20Y
CA   Induced pluripotent stem cell
DT   Created: 10-04-15; Last updated: 19-12-24; Version: 13
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