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Cellosaurus GM11604 (CVCL_9R94)

[Text version]
Cell line name GM11604
Accession CVCL_9R94
Resource Identification Initiative To cite this cell line use: GM11604 (RRID:CVCL_9R94)
Comments Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:7758; NEU1; Simple; p.Gly3Thrfs*24 (c.4_7dupACTG); Zygosity=Homozygous (PubMed=9054950).
Disease Neuraminidase deficiency (NCIt: C125596)
Sialidosis type 1 (ORDO: Orphanet_812)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 5M
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=9054950; DOI=10.1038/ng0397-316
Pshezhetsky A.V., Richard C., Michaud L., Igdoura S., Wang S.-P., Elsliger M.-A., Qu J.-Y., Leclerc D., Gravel R.A., Dallaire L., Potier M.
Cloning, expression and chromosomal mapping of human lysosomal sialidase and characterization of mutations in sialidosis.
Nat. Genet. 15:316-320(1997)

Cross-references
Cell line collections (Providers) Coriell; GM11604
Cell line databases/resources CLO; CLO_0021185
Encyclopedic resources Wikidata; Q54845186
Entry history
Entry creation23-Feb-2016
Last entry update19-Dec-2024
Version number10