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 creation | 22-Sep-2015 |
Last entry update | 29-Jun-2023 |
Version number | 9 |
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