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Cellosaurus GM03112 (CVCL_L776)

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Cell line name GM03112
Synonyms GM03112F; GM03112G
Accession CVCL_L776
Resource Identification Initiative To cite this cell line use: GM03112 (RRID:CVCL_L776)
Comments Population: Caucasian.
Derived from site: In situ; Fetus; UBERON=UBERON_0000323.
Cell type: Fibroblast; CL=CL_0000057.
Sequence variations
  • Mutation; HGNC; HGNC:29670; GNPTAB; Simple; p.Leu730Lysfs*7 (c.2188delTinsAAA) (2352delTinsAAA); ClinVar=VCV000038418; Zygosity=Heterozygous (PubMed=16465621).
  • Mutation; HGNC; HGNC:29670; GNPTAB; Simple; p.Leu1168Glnfs*5 (c.3501_3502TC[1]) (c.3503_3504delTC) (3665_3666delTC); ClinVar=VCV000002771; Zygosity=Heterozygous (PubMed=16465621).
Disease I-cell disease (NCIt: C61270)
Mucolipidosis type II (ORDO: Orphanet_576)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 21FW
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; GM03112
Cell line databases/resources CLO; CLO_0013554
Biological sample resources BioSample; SAMN00808253
Encyclopedic resources Wikidata; Q54837876
Entry history
Entry creation06-May-2013
Last entry update19-Dec-2024
Version number19