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Cellosaurus GM04717 (CVCL_V568)

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Cell line name GM04717
Accession CVCL_V568
Resource Identification Initiative To cite this cell line use: GM04717 (RRID:CVCL_V568)
Comments Part of: Venezuelan Huntington disease kindreds subcollection.
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[42] (c.52CAG(42)) (c.52CAG[(40_?)]); ClinVar=VCV000000409; Zygosity=Heterozygous (from child cell line ND38548).
Disease Huntington's disease (NCIt: C82342)
Huntington disease (ORDO: Orphanet_399)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Children:
CVCL_Y817 (ND38548)
Originate from same individual CVCL_V569 ! GM04718
Sex of cell Female
Age at sampling 44Y
Category Finite cell line
Publications

CLPUB00447
Richard A. Mulivor, Sharon F. Suchy;
1992/1993 catalog of cell lines. NIGMS human genetic mutant cell repository. 16th edition. October 1992.
(In misc. document) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda; USA (1992)

Cross-references
Cell line collections (Providers) Coriell; GM04717
Cell line databases/resources CLO; CLO_0019021
Encyclopedic resources Wikidata; Q54838649
Entry history
Entry creation16-Apr-2014
Last entry update19-Dec-2024
Version number15