Cellosaurus logo
expasy logo

Cellosaurus GM01006 (CVCL_UA02)

[Text version]
Cell line name GM01006
Synonyms GM 1006; GM1006
Accession CVCL_UA02
Resource Identification Initiative To cite this cell line use: GM01006 (RRID:CVCL_UA02)
Comments Cell type: Fibroblast; CL=CL_0000057.
Sequence variations
  • Mutation; HGNC; HGNC:29670; GNPTAB; Simple; c.3435-1G>A (IVS19-1G>A); ClinVar=VCV000038427; Zygosity=Heterozygous; Note=Splice acceptor mutation (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 Mucolipidosis type IIIA (NCIt: C125595)
Mucolipidosis type III alpha/beta (ORDO: Orphanet_423461)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Category Finite cell line
Publications

PubMed=113895; DOI=10.1007/BF01539157
Shows T.B., Scrafford-Wolff L.R., Brown J.A., Meisler M.H.
GM1-gangliosidosis: chromosome 3 assignment of the beta-galactosidase-A gene (beta GALA).
Somatic Cell Genet. 5:147-158(1979)

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; GM01006 - Discontinued
Encyclopedic resources Wikidata; Q93568868
Entry history
Entry creation13-Nov-2018
Last entry update19-Dec-2024
Version number10