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Cellosaurus GM00519 (CVCL_V775)

[Text version]
Cell line name GM00519
Synonyms GM-519; GM 519
Accession CVCL_V775
Resource Identification Initiative To cite this cell line use: GM00519 (RRID:CVCL_V775)
Comments Population: Caucasian.
Omics: SNP array analysis.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Disease Maroteaux-Lamy syndrome (NCIt: C61264)
Mucopolysaccharidosis type 6 (ORDO: Orphanet_583)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual CVCL_V790 ! GM01022
CVCL_V821 ! GM05358
Sex of cell Female
Age at sampling 4Y
Category Finite cell line
Publications

PubMed=806052; DOI=10.1203/00006450-197505000-00003
Beratis N.G., Turner B.M., Weiss R., Hirschhorn K.
Arylsulfatase B deficiency in Maroteaux-Lamy syndrome: cellular studies and carrier identification.
Pediatr. Res. 9:475-480(1975)

PubMed=826372; DOI=10.1159/000130717
Beratis N.G., Hirschhorn K., Friedman S., Greene A.E., Coriell L.L.
Maroteaux-Lamy syndrome: repository identification Nos. GM-519, 520, 935, 943, and 1022.
Cytogenet. Cell Genet. 17:236-238(1976)

DOI=10.5962/bhl.title.4090
Coriell L.L., Greene A.E.
The human genetic mutant cell repository: list of genetic variants, chromosomal aberrations and normal cell cultures submitted to the repository. 4th edition. October 1977.
(In misc. document) Institute for Medical Research (Camden, N.J.); pp.1-171; National Institutes of Health; Bethesda; USA (1977)

PubMed=36611; DOI=10.1073/pnas.76.4.1957; PMCID=PMC383512
DeLuca C., Brown J.A., Shows T.B.
Lysosomal arylsulfatase deficiencies in humans: chromosome assignments for arylsulfatase A and B.
Proc. Natl. Acad. Sci. U.S.A. 76:1957-1961(1979)

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=21418647; DOI=10.1186/gb-2011-12-3-r25; PMCID=PMC3129675
Morcos L., Ge B., Koka V., Lam K.C.L., Pokholok D.K., Gunderson K.L., Montpetit A., Verlaan D.J., Pastinen T.
Genome-wide assessment of imprinted expression in human cells.
Genome Biol. 12:R25.1-R25.14(2011)

PubMed=25326100; DOI=10.15252/msb.20145114; PMCID=PMC4299376
Adoue V., Schiavi A., Light N., Almlof J.C., Lundmark P., Ge B., Kwan T., Caron M., Ronnblom L., Wang C., Chen S.-H., Goodall A.H., Cambien F., Deloukas P., Ouwehand W.H., Syvanen A.-C., Pastinen T.
Allelic expression mapping across cellular lineages to establish impact of non-coding SNPs.
Mol. Syst. Biol. 10:754-754(2014)

Cross-references
Cell line collections (Providers) Coriell; GM00519
Cell line databases/resources CLO; CLO_0025937
Encyclopedic resources Wikidata; Q54836285
Gene expression databases GEO; GSM651166
GEO; GSM651167
GEO; GSM1266911
GEO; GSM1267005
Entry history
Entry creation16-Apr-2014
Last entry update29-Jun-2023
Version number13