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Cellosaurus GM03066 (CVCL_9Q93)

[Text version]
Cell line name GM03066
Synonyms GM03066C
Accession CVCL_9Q93
Resource Identification Initiative To cite this cell line use: GM03066 (RRID:CVCL_9Q93)
Comments Population: Caucasian.
Derived from site: In situ; Fetus; UBERON=UBERON_0000323.
Cell type: Fibroblast; CL=CL_0000057.
Sequence variations
  • Mutation; HGNC; 29670; GNPTAB; Simple; p.Thr284Leufs*5 (c.850delA) (1012delA); ClinVar=VCV000038434; Zygosity=Heterozygous (PubMed=16465621).
  • Mutation; HGNC; 29670; GNPTAB; Simple; p.Cys528Valfs*19 (c.1581delC) (1744delC); ClinVar=VCV000038414; 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 23FW
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) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda (1992)

PubMed=16465621; DOI=10.1086/500849
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; GM03066
Cell line databases/resources CLO; CLO_0013477
Biological sample resources BioSample; SAMN00808234
Encyclopedic resources Wikidata; Q54837848
Entry history
Entry creation23-Feb-2016
Last entry update29-Jun-2023
Version number12