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Cellosaurus GM04777 (CVCL_Y854)

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Cell line name GM04777
Synonyms GM 4777
Accession CVCL_Y854
Resource Identification Initiative To cite this cell line use: GM04777 (RRID:CVCL_Y854)
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[44] (c.52CAG(45)) (c.52CAG[(40_?)]); ClinVar=VCV000000409; Zygosity=Heterozygous (from child cell line ND38547).
Disease Huntington's disease (NCIt: C82342)
Huntington disease (ORDO: Orphanet_399)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Children:
CVCL_Y816 (ND38547)
Originate from same individual CVCL_Y853 ! GM04776
Sex of cell Male
Age at sampling 53Y
Category Finite cell line
Publications

PubMed=6230415; DOI=10.1016/0022-510x(83)90187-9
Carlota Sumbilla, Joseph Raymond Lakowicz;
Evidence for normal fibroblast cell membranes from individuals with Huntington's disease. A fluorescence probe study.
J. Neurol. Sci. 62:23-40(1983)

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)

PubMed=7847674; DOI=10.1111/j.1749-6632.1994.tb44413.x
Rene Etcheberrigaray, Gary E. Gibson, Daniel Leon Alkon;
Molecular mechanisms of memory and the pathophysiology of Alzheimer's disease.
Ann. N. Y. Acad. Sci. 747:245-255(1994)

Cross-references
Cell line collections (Providers) Coriell; GM04777
Cell line databases/resources CLO; CLO_0018252
Encyclopedic resources Wikidata; Q54838676
Entry history
Entry creation10-Apr-2015
Last entry update19-Dec-2024
Version number14