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Cellosaurus GM00294 (CVCL_1Y42)

[Text version]
Cell line name GM00294
Synonyms GM-294; GM 294
Accession CVCL_1Y42
Resource Identification Initiative To cite this cell line use: GM00294 (RRID:CVCL_1Y42)
Comments Population: Caucasian.
Cell type: Fibroblast; CL=CL_0000057.
Disease Sandhoff disease (NCIt: C85052)
Sandhoff disease (ORDO: Orphanet_796)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 2Y
Category Finite cell line
Publications

PubMed=817596; PMCID=PMC1684927
Rattazzi M.C., Brown J.A., Davidson R.G., Shows T.B.
Studies on complementation of beta hexosaminidase deficiency in human GM2 gangliosidosis.
Am. J. Hum. Genet. 28:143-154(1976)

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)

PubMed=3017984; DOI=10.1016/S0021-9258(18)67145-5
O'Dowd B.F., Klavins M.H., Willard H.F., Gravel R.A., Lowden J.A., Mahuran D.J.
Molecular heterogeneity in the infantile and juvenile forms of Sandhoff disease (O-variant GM2 gangliosidosis).
J. Biol. Chem. 261:12680-12685(1986)

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; GM00294
Cell line databases/resources CLO; CLO_0025511
Encyclopedic resources Wikidata; Q54836141
Entry history
Entry creation22-Sep-2015
Last entry update29-Jun-2023
Version number9