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Cellosaurus GM03392 (CVCL_IN50)

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Cell line name GM03392
Accession CVCL_IN50
Resource Identification Initiative To cite this cell line use: GM03392 (RRID:CVCL_IN50)
Comments Population: Iranian.
Cell type: Fibroblast; CL=CL_0000057.
Sequence variations
  • Mutation; HGNC; HGNC:23026; GNPTG; Simple; p.Ala149Profs*13 (c.445delG); ClinVar=VCV000039080; Zygosity=Homozygous (Coriell=GM03392).
Disease Mucolipidosis type III gamma (NCIt: C129978)
Mucolipidosis type III gamma (ORDO: Orphanet_423470)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 13Y
Category Finite 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=16465621; DOI=10.1086/500849; PMCID=PMC1380288
Mariko Kudo, Michael S. Brem, William M. Canfield;
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; GM03392
Cell line databases/resources CLO; CLO_0016617
Biological sample resources BioSample; SAMN00808387
Encyclopedic resources Wikidata; Q54838044
Entry history
Entry creation01-Dec-2016
Last entry update19-Dec-2024
Version number15