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Cellosaurus GM02558 (CVCL_9R70)

[Text version]
Cell line name GM02558
Accession CVCL_9R70
Resource Identification Initiative To cite this cell line use: GM02558 (RRID:CVCL_9R70)
Comments Population: African American.
Cell type: Fibroblast; CL=CL_0000057.
Sequence variations
  • Mutation; HGNC; 29670; GNPTAB; Simple; p.Gln278Ter (c.832C>T); ClinVar=VCV000038433; Zygosity=Heterozygous (PubMed=16465621).
  • Mutation; HGNC; 29670; GNPTAB; Simple; c.3335+6T>G (IVS17+6T>G); ClinVar=VCV000002773; Zygosity=Heterozygous (PubMed=16465621).
Disease Mucolipidosis type IIIA (NCIt: C125595)
Mucolipidosis type III alpha/beta (ORDO: Orphanet_423461)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 9Y
Category Finite 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; GM02558
Cell line databases/resources CLO; CLO_0033440
Encyclopedic resources Wikidata; Q54837548
Entry history
Entry creation23-Feb-2016
Last entry update29-Jun-2023
Version number13