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Cellosaurus GM09787 (CVCL_U399)

[Text version]
Cell line name GM09787
Accession CVCL_U399
Resource Identification Initiative To cite this cell line use: GM09787 (RRID:CVCL_U399)
Comments Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; 4878; HEXA; Simple; c.1073+1G>A (IVS9+1G>A); ClinVar=VCV000003920; Zygosity=Heterozygous; Note=Splice donor mutation (Coriell=GM09787).
Disease Tay-Sachs disease (NCIt: C85184)
Tay-Sachs disease (ORDO: Orphanet_845)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 3Y
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)

PubMed=19815695; DOI=10.2353/jmoldx.2009.090050
Kalman L.V., Wilson J.A., Buller-Burckle A.M., Dixon J., Edelmann L.J., Geller L., Highsmith W.E. Jr., Holtegaard L.M., Kornreich R., Rohlfs E.M., Payeur T.L., Sellers T., Toji L.H., Muralidharan K.
Development of genomic DNA reference materials for genetic testing of disorders common in people of Ashkenazi Jewish descent.
J. Mol. Diagn. 11:530-536(2009)

Cross-references
Cell line collections (Providers) Coriell; GM09787
Cell line databases/resources CLO; CLO_0030490
Encyclopedic resources Wikidata; Q54844055
Entry history
Entry creation03-Feb-2014
Last entry update30-Jan-2024
Version number16