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Cellosaurus (CVCL_IV71)

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Accession CVCL_EY60
Comments Donor information: At sampling donor was not affected with Huntington's disease but at risk for disease (HTT has CAG repeat length greater than or equal to 36).
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[41] (c.52CAG(41)) (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)
Sex of cell Female
Age at sampling 25Y
Category Finite cell line
Publications



mammary epithelial cell line.
PLoS ONE 7:e40469.1-e40469.14(2012)

Cross-references
Cell line collections (Providers) Coriell; ND30016 - Discontinued
NHCDR; ND30016
Encyclopedic resources Wikidata; Q54929314
Entry history
Entry creation26-Sep-2016
Last entry update19-Dec-2024
Version number14