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Cellosaurus GM04718 (CVCL_V569)

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Cell line name GM04718
Synonyms GM04718A
Accession CVCL_V569
Resource Identification Initiative To cite this cell line use: GM04718 (RRID:CVCL_V569)
Comments Part of: Venezuelan Huntington disease kindreds subcollection.
Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:4851; HTT; Repeat_expansion; p.Gln18[42] (c.52CAG(42)) (c.52CAG[(40_?)]); ClinVar=VCV000000409; Zygosity=Heterozygous (from autologous cell line GM04718).
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_V568 ! GM04717
Sex of cell Female
Age at sampling 44Y
Category Transformed 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; GM04718
Cell line databases/resources CLO; CLO_0019022
Encyclopedic resources Wikidata; Q54838650
Entry history
Entry creation16-Apr-2014
Last entry update19-Dec-2024
Version number15