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Cellosaurus GM03685 (CVCL_9R79)

[Text version]
Cell line name GM03685
Accession CVCL_9R79
Resource Identification Initiative To cite this cell line use: GM03685 (RRID:CVCL_9R79)
Comments Population: Caucasian.
Cell type: Fibroblast; CL=CL_0000057.
Sequence variations
  • Mutation; HGNC; 29670; GNPTAB; Simple; c.3335+6T>G (IVS17+6T>G); ClinVar=VCV000002773; Zygosity=Heterozygous (PubMed=16465621).
  • Mutation; HGNC; 29670; GNPTAB; Simple; p.Leu1168Glnfs*5 (c.3501_3502TC[1]) (c.3503_3504delTC) (3665_3666delTC); ClinVar=VCV000002771; 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 Male
Age at sampling 15Y
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; GM03685
Cell line databases/resources CLO; CLO_0015483
Biological sample resources BioSample; SAMN00808496
Encyclopedic resources Wikidata; Q54838189
Entry history
Entry creation23-Feb-2016
Last entry update29-Jun-2023
Version number12