ID   GM00519
AC   CVCL_V775
SY   GM-519; GM 519
DR   CLO; CLO_0025937
DR   Coriell; GM00519
DR   GEO; GSM651166
DR   GEO; GSM651167
DR   GEO; GSM1266911
DR   GEO; GSM1267005
DR   Wikidata; Q54836285
RX   CelloPub=CLPUB00447;
RX   DOI=10.5962/bhl.title.4090;
RX   PubMed=36611;
RX   PubMed=806052;
RX   PubMed=826372;
RX   PubMed=21418647;
RX   PubMed=25326100;
CC   Population: Caucasian.
CC   Omics: SNP array analysis.
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C61264; Maroteaux-Lamy syndrome
DI   ORDO; Orphanet_583; Mucopolysaccharidosis type 6
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_V790 ! GM01022
OI   CVCL_V821 ! GM05358
SX   Female
AG   4Y
CA   Finite cell line
DT   Created: 16-04-14; Last updated: 29-06-23; Version: 13
//
RX   CelloPub=CLPUB00447;
RA   Mulivor R.A., Suchy S.F.;
RT   "1992/1993 catalog of cell lines. NIGMS human genetic mutant cell
RT   repository. 16th edition. October 1992.";
RL   (In misc. document) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda; USA (1992).
//
RX   DOI=10.5962/bhl.title.4090;
RA   Coriell L.L., Greene A.E.;
RT   "The human genetic mutant cell repository: list of genetic variants,
RT   chromosomal aberrations and normal cell cultures submitted to the
RT   repository. 4th edition. October 1977.";
RL   (In misc. document) Institute for Medical Research (Camden, N.J.); pp.1-171; National Institutes of Health; Bethesda; USA (1977).
//
RX   PubMed=36611; DOI=10.1073/pnas.76.4.1957; PMCID=PMC383512;
RA   DeLuca C., Brown J.A., Shows T.B.;
RT   "Lysosomal arylsulfatase deficiencies in humans: chromosome
RT   assignments for arylsulfatase A and B.";
RL   Proc. Natl. Acad. Sci. U.S.A. 76:1957-1961(1979).
//
RX   PubMed=806052; DOI=10.1203/00006450-197505000-00003;
RA   Beratis N.G., Turner B.M., Weiss R., Hirschhorn K.;
RT   "Arylsulfatase B deficiency in Maroteaux-Lamy syndrome: cellular
RT   studies and carrier identification.";
RL   Pediatr. Res. 9:475-480(1975).
//
RX   PubMed=826372; DOI=10.1159/000130717;
RA   Beratis N.G., Hirschhorn K., Friedman S., Greene A.E., Coriell L.L.;
RT   "Maroteaux-Lamy syndrome: repository identification Nos. GM-519, 520,
RT   935, 943, and 1022.";
RL   Cytogenet. Cell Genet. 17:236-238(1976).
//
RX   PubMed=21418647; DOI=10.1186/gb-2011-12-3-r25; PMCID=PMC3129675;
RA   Morcos L., Ge B., Koka V., Lam K.C.L., Pokholok D.K., Gunderson K.L.,
RA   Montpetit A., Verlaan D.J., Pastinen T.;
RT   "Genome-wide assessment of imprinted expression in human cells.";
RL   Genome Biol. 12:R25.1-R25.14(2011).
//
RX   PubMed=25326100; DOI=10.15252/msb.20145114; PMCID=PMC4299376;
RA   Adoue V., Schiavi A., Light N., Almlof J.C., Lundmark P., Ge B.,
RA   Kwan T., Caron M., Ronnblom L., Wang C., Chen S.-H., Goodall A.H.,
RA   Cambien F., Deloukas P., Ouwehand W.H., Syvanen A.-C., Pastinen T.;
RT   "Allelic expression mapping across cellular lineages to establish
RT   impact of non-coding SNPs.";
RL   Mol. Syst. Biol. 10:754-754(2014).
//