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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: Variations; 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
Nicholas G. Beratis, Bryan Michael Turner, Roberta Weiss, Kurt Hirschhorn;
Arylsulfatase B deficiency in Maroteaux-Lamy syndrome: cellular studies and carrier identification.
Pediatr. Res. 9:475-480(1975)

PubMed=826372; DOI=10.1159/000130717
Nicholas G. Beratis, Kurt Hirschhorn, S. Friedman, Arthur E. Greene, Lewis Lemon Coriell;
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
Lewis Lemon Coriell, Arthur E. Greene;
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
Chester DeLuca, Judith A. Brown, Thomas Byron Shows;
Lysosomal arylsulfatase deficiencies in humans: chromosome assignments for arylsulfatase A and B.
Proc. Natl. Acad. Sci. U.S.A. 76:1957-1961(1979)

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=21418647; DOI=10.1186/gb-2011-12-3-r25; PMCID=PMC3129675
Lisanne Morcos, Bing Ge, Vonda Koka, Kevin C.L. Lam, Dmitry K. Pokholok, Kevin L. Gunderson, Alexandre Montpetit, Dominique J. Verlaan, Tomi Pastinen;
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
Veronique Adoue, Alicia Schiavi, Nicholas Light, Jonas Carlsson Almlof, Per Lundmark, Bing Ge, Tony Kwan, Maxime Caron, Lars Ronnblom, Chuan Wang, Shu-Huang Chen ...Show all 17 authors... , Alison H. Goodall, Francois Cambien, Panos Deloukas, Willem Hendrik Ouwehand, Ann-Christine Syvanen, Tomi Pastinen; Show fewer authors
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 update10-Apr-2025
Version number14