ID   GM02455
AC   CVCL_9W84
DR   CLO; CLO_0033335
DR   BioSample; SAMN00807796
DR   Coriell; GM02455
DR   GEO; GSM651122
DR   GEO; GSM651123
DR   GEO; GSM1266980
DR   GEO; GSM1267058
DR   Wikidata; Q54837504
RX   CelloPub=CLPUB00447;
RX   PubMed=21418647;
RX   PubMed=25326100;
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 4298; GLB1; Simple; p.Trp273Leu (c.818G>T); ClinVar=VCV000000931; Zygosity=Heterozygous (Coriell=GM02455).
CC   Sequence variation: Mutation; HGNC; 4298; GLB1; Simple; p.Arg482His (c.1445G>A); ClinVar=VCV000000932; Zygosity=Heterozygous (Coriell=GM02455).
CC   Omics: SNP array analysis.
CC   Cell type: Fibroblast; CL=CL_0000057.
DI   NCIt; C84902; Mucopolysaccharidosis type IVB
DI   ORDO; Orphanet_309310; Mucopolysaccharidosis type 4B
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   6Y
CA   Finite cell line
DT   Created: 23-02-16; Last updated: 30-01-24; Version: 14
//
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) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda (1992).
//
RX   PubMed=21418647; DOI=10.1186/gb-2011-12-3-r25;
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;
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).
//