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Cellosaurus GM03441 (CVCL_U390)

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Cell line name GM03441
Synonyms GM 03441
Accession CVCL_U390
Resource Identification Initiative To cite this cell line use: GM03441 (RRID:CVCL_U390)
Comments Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:4878; HEXA; Simple; p.Gly269Ser (c.805G>A); ClinVar=VCV000003898; Zygosity=Heterozygous (Coriell=GM03441).
  • Mutation; HGNC; HGNC:4878; HEXA; Simple; c.1421+1G>C (IVS12+1G>C); ClinVar=VCV000003890; Zygosity=Heterozygous; Note=Splice donor mutation (Coriell=GM03441).
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 37Y
Category Transformed cell line
Publications

CLPUB00447
Richard A. Mulivor, Sharon F. Suchy;
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)

PubMed=8328452; PMCID=PMC1682364
Gideon Bach, Samuel M. Moskowitz, Phuong T. Tieu, Anna Matynia, Elizabeth Fondal Neufeld;
Molecular analysis of Hurler syndrome in Druze and Muslim Arab patients in Israel: multiple allelic mutations of the IDUA gene in a small geographic area.
Am. J. Hum. Genet. 53:330-338(1993)

Cross-references
Cell line collections (Providers) Coriell; GM03441
Cell line databases/resources CLO; CLO_0017035
Biological sample resources BioSample; SAMN00808408
Encyclopedic resources Wikidata; Q54838069
Entry history
Entry creation03-Feb-2014
Last entry update19-Dec-2024
Version number19