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Cellosaurus GM04287 (CVCL_Y859)

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Cell line name GM04287
Accession CVCL_Y859
Resource Identification Initiative To cite this cell line use: GM04287 (RRID:CVCL_Y859)
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[50] (c.52CAG(50)) (c.52CAG[(40_?)]); ClinVar=VCV000000409; Zygosity=Heterozygous (from child cell line ND38551).
Disease Huntington's disease (NCIt: C82342)
Huntington disease (ORDO: Orphanet_399)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Children:
CVCL_Y819 (ND38551)
Originate from same individual CVCL_Y860 ! GM04288
Sex of cell Male
Age at sampling 43Y
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; GM04287
Cell line databases/resources CLO; CLO_0019641
Encyclopedic resources Wikidata; Q54838469
Entry history
Entry creation10-Apr-2015
Last entry update19-Dec-2024
Version number13