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Cellosaurus (CVCL_IV68)

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Comments Caution: Patient indicated as not affected with HD in HQ01808, but as affected in ND30013.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:4851; HTT; Repeat_expansion; p.Gln18[43] (c.52CAG(43)) (c.52CAG[(40_?)]); ClinVar=VCV000000409; Zygosity=Heterozygous (PubMed=22952635).
Disease Huntington's disease (NCIt: C82342)
Huntington disease (ORDO: Orphanet_399)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual CVCL_3S77 ! HQ01808
Sex of cell Male
Age at sampling 54Y
Category Finite cell line
Entry history
Entry creation10-Apr-2015
Last entry update19-Dec-2024
Version number14