ID   GM00294
AC   CVCL_1Y42
SY   GM-294; GM 294
DR   CLO; CLO_0025511
DR   Coriell; GM00294
DR   Wikidata; Q54836141
RX   CelloPub=CLPUB00447;
RX   DOI=10.5962/bhl.title.4090;
RX   PubMed=817596;
RX   PubMed=3017984;
CC   Population: Caucasian.
CC   Cell type: Fibroblast; CL=CL_0000057.
DI   NCIt; C85052; Sandhoff disease
DI   ORDO; Orphanet_796; Sandhoff disease
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   2Y
CA   Finite cell line
DT   Created: 22-09-15; Last updated: 29-06-23; Version: 9
//
RX   DOI=10.5962/bhl.title.4090;
RA   Coriell, Lewis Lemon
RA   Greene, Arthur E.
RT   "The human genetic mutant cell repository: list of genetic variants,
RT   chromosomal aberrations and normal cell cultures submitted to the
RT   repository. 4th edition. October 1977.";
RL   (In misc. document) Institute for Medical Research (Camden, N.J.); pp.1-171; National Institutes of Health; Bethesda; USA (1977).
//
RX   CelloPub=CLPUB00447;
RA   Mulivor, Richard A.
RA   Suchy, Sharon F.
RT   "1992/1993 catalog of cell lines. NIGMS human genetic mutant cell
RT   repository. 16th edition. October 1992.";
RL   (In misc. document) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda; USA (1992).
//
RX   PubMed=817596; PMCID=PMC1684927;
RA   Rattazzi, Mario Cristiano
RA   Brown, Judith A.
RA   Davidson, Ronald G.
RA   Shows, Thomas Byron
RT   "Studies on complementation of beta hexosaminidase deficiency in human
RT   GM2 gangliosidosis.";
RL   Am. J. Hum. Genet. 28:143-154(1976).
//
RX   PubMed=3017984; DOI=10.1016/S0021-9258(18)67145-5;
RA   O'Dowd, Brian F.
RA   Klavins, Maris H.
RA   Willard, Huntington Faxon
RA   Gravel, Roy A.
RA   Lowden, John Alexander
RA   Mahuran, Don J.
RT   "Molecular heterogeneity in the infantile and juvenile forms of
RT   Sandhoff disease (O-variant GM2 gangliosidosis).";
RL   J. Biol. Chem. 261:12680-12685(1986).
//