ID   GM03441
AC   CVCL_U390
SY   GM 03441
DR   CLO; CLO_0017035
DR   BioSample; SAMN00808408
DR   Coriell; GM03441
DR   Wikidata; Q54838069
RX   CelloPub=CLPUB00447;
RX   PubMed=8328452;
CC   Sequence variation: Mutation; HGNC; 4878; HEXA; Simple; p.Gly269Ser (c.805G>A); ClinVar=VCV000003898; Zygosity=Heterozygous (Coriell=GM03441).
CC   Sequence variation: Mutation; HGNC; 4878; HEXA; Simple; c.1421+1G>C (IVS12+1G>C); ClinVar=VCV000003890; Zygosity=Heterozygous; Note=Splice donor mutation (Coriell=GM03441).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C85184; Tay-Sachs disease
DI   ORDO; Orphanet_845; Tay-Sachs disease
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   37Y
CA   Transformed cell line
DT   Created: 03-02-14; Last updated: 30-01-24; Version: 18
//
RX   CelloPub=CLPUB00447;
RA   Mulivor R.A., Suchy S.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=8328452; PMCID=PMC1682364;
RA   Bach G., Moskowitz S.M., Tieu P.T., Matynia A., Neufeld E.F.;
RT   "Molecular analysis of Hurler syndrome in Druze and Muslim Arab
RT   patients in Israel: multiple allelic mutations of the IDUA gene in a
RT   small geographic area.";
RL   Am. J. Hum. Genet. 53:330-338(1993).
//