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Cellosaurus GM01982 (CVCL_F590)

[Text version]
Cell line name GM01982
Synonyms GM-1982
Accession CVCL_F590
Resource Identification Initiative To cite this cell line use: GM01982 (RRID:CVCL_F590)
Comments Population: Caucasian.
Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; 869; ATP7A; Simple; p.Ile220Serfs*9 (c.659_663delTCTCA) (803_807delATCTC) (p.Leu219fs); Zygosity=Hemizygous (Coriell=GM01982).
Disease Menkes disease (NCIt: C75486)
Menkes disease (ORDO: Orphanet_565)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual CVCL_F589 ! GM01981
Sex of cell Male
Age at sampling 2Y
Category Transformed cell line
Publications

DOI=10.5962/bhl.title.4090
Coriell L.L., Greene A.E.
The human genetic mutant cell repository: list of genetic variants, chromosomal aberrations and normal cell cultures submitted to the repository. 4th edition. October 1977.
(In misc. document) Institute for Medical Research (Camden, N.J.); pp.1-171; National Institutes of Health; Bethesda; USA (1977)

CLPUB00447
Mulivor R.A., Suchy S.F.
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; GM01982
Cell line databases/resources CLO; CLO_0032357
Biological sample resources BioSample; SAMN00807348
Encyclopedic resources Wikidata; Q54837213
Entry history
Entry creation11-Feb-2013
Last entry update30-Jan-2024
Version number17