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Cellosaurus GM04282 (CVCL_F113)

[Text version]
Cell line name GM04282
Synonyms GM04282A
Accession CVCL_F113
Resource Identification Initiative To cite this cell line use: GM04282 (RRID:CVCL_F113)
Comments Part of: Genetic Testing Reference Material (GeT-RM) samples.
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; 4851; HTT; Repeat_expansion; p.Gln18[71] (c.52CAG(71)) (c.52CAG[(40_?)]); ClinVar=VCV000000409; Zygosity=Heterozygous (from autologous cell line GM04281).
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_8519 ! GM04281
Sex of cell Female
Age at sampling 20Y
Category Transformed cell line
Publications

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

Cross-references
Cell line collections (Providers) Coriell; GM04282
Cell line databases/resources CLO; CLO_0019590
Encyclopedic resources Wikidata; Q54838464
Entry history
Entry creation22-Oct-2012
Last entry update29-Jun-2023
Version number18