ID   GM00439
AC   CVCL_V771
SY   GM-439; GM0439
DR   CLO; CLO_0026117
DR   Coriell; GM00439
DR   GEO; GSM1257724
DR   GEO; GSM1266990
DR   GEO; GSM1267067
DR   GEO; GSM1288420
DR   Wikidata; Q54836223
RX   CelloPub=CLPUB00447;
RX   DOI=10.5962/bhl.title.4090;
RX   PubMed=181209;
RX   PubMed=2498246;
RX   PubMed=24555846;
RX   PubMed=25326100;
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 4135; GALT; Simple; p.Gln188Arg (c.563A>G); ClinVar=VCV000003614; Zygosity=Heterozygous (Coriell=GM00439).
CC   Omics: DNA methylation analysis.
CC   Omics: SNP array analysis.
CC   Omics: Transcriptome analysis by microarray.
CC   Cell type: Fibroblast; CL=CL_0000057.
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_V795 ! GM01029
SX   Female
AG   41Y
CA   Finite cell line
DT   Created: 16-04-14; 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   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=181209; DOI=10.1159/000130689;
RA   Kaffe S., Beratis N.G., Hirschhorn K., Greene A.E., Coriell L.L.;
RT   "Galactosemia. Repository identification Nos. GM-438 to GM-442.";
RL   Cytogenet. Cell Genet. 17:62-64(1976).
//
RX   PubMed=2498246; DOI=10.1111/j.1349-7006.1989.tb02278.x;
RA   Koi M., Morita H., Shimizu M., Oshimura M.;
RT   "Construction of mouse A9 clones containing a single human chromosome
RT   (X/autosome translocation) via micro-cell fusion.";
RL   Jpn. J. Cancer Res. 80:122-125(1989).
//
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).
//