ID   GM00290
AC   CVCL_V762
SY   GM-290
DR   CLO; CLO_0025510
DR   BioSample; SAMN00794932
DR   Coriell; GM00290
DR   GEO; GSM651160
DR   GEO; GSM651161
DR   GEO; GSM1257694
DR   GEO; GSM1266952
DR   GEO; GSM1267036
DR   GEO; GSM1288418
DR   Wikidata; Q54836138
RX   CelloPub=CLPUB00447;
RX   DOI=10.5962/bhl.title.4090;
RX   PubMed=1192845;
RX   PubMed=21418647;
RX   PubMed=24555846;
RX   PubMed=25326100;
CC   Sequence variation: Mutation; HGNC; 4006; FUCA1; Simple; p.Gln82Ter (c.244C>T) (Q77*); ClinVar=VCV000000685; Zygosity=Heterozygous (from autologous cell line GM01026).
CC   Omics: DNA methylation analysis.
CC   Omics: SNP array analysis.
CC   Omics: Transcriptome analysis by microarray.
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_V794 ! GM01026
SX   Female
AG   29Y
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) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda (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) Institute for Medical Research (Camden, N.J.); pp.1-171; National Institutes of Health; Bethesda (1977).
//
RX   PubMed=1192845; DOI=10.1159/000130518;
RA   Beratis N.G., Kousseff B.G., Hirschhorn K., Greene A.E., Coriell L.L.;
RT   "Fucosidosis type 2. Repository identification Nos. GM-289 to GM-292.";
RL   Cytogenet. Cell Genet. 15:195-197(1975).
//
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=24555846; DOI=10.1186/gb-2014-15-2-r37;
RA   Wagner J.R., Busche S., Ge B., Kwan T., Pastinen T., Blanchette M.;
RT   "The relationship between DNA methylation, genetic and expression
RT   inter-individual variation in untransformed human fibroblasts.";
RL   Genome Biol. 15:R37.1-R37.17(2014).
//
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).
//