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Cellosaurus GM02687 (CVCL_9Q92)

[Text version]
Cell line name GM02687
Accession CVCL_9Q92
Resource Identification Initiative To cite this cell line use: GM02687 (RRID:CVCL_9Q92)
Comments Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; 29670; GNPTAB; Simple; p.Ser581Ilefs*8 (c.1738TATA[3]) (c.1738_1741[3]) (1902_1905tripTATA); ClinVar=VCV000038415; Zygosity=Heterozygous (PubMed=16465621).
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 26Y
Category Transformed cell line
Publications

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)

PubMed=16465621; DOI=10.1086/500849; PMCID=PMC1380288
Kudo M., Brem M.S., Canfield W.M.
Mucolipidosis II (I-cell disease) and mucolipidosis IIIA (classical pseudo-Hurler polydystrophy) are caused by mutations in the GlcNAc-phosphotransferase alpha/beta-subunits precursor gene.
Am. J. Hum. Genet. 78:451-463(2006)

Cross-references
Cell line collections (Providers) Coriell; GM02687
Cell line databases/resources CLO; CLO_0014955
Biological sample resources BioSample; SAMN00808014
Encyclopedic resources Wikidata; Q54837632
Entry history
Entry creation23-Feb-2016
Last entry update29-Jun-2023
Version number12