ID   WG1084
AC   CVCL_RA62
SY   WG 1084; 1084
DR   GEO; GSM651138
DR   GEO; GSM651139
DR   GEO; GSM1266935
DR   GEO; GSM1267024
DR   Wikidata; Q54993849
RX   Patent=US6528259;
RX   PubMed=7726158;
RX   PubMed=8940272;
RX   PubMed=21418647;
RX   PubMed=24555846;
RX   PubMed=25326100;
CC   From: Montreal Children's Hospital cell repository; Montreal; Canada.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:7436; MTHFR; Simple; p.Thr227Met (c.680C>T); ClinVar=VCV000800827; Zygosity=Homozygous (PubMed=7726158; PubMed=8940272).
CC   Omics: SNP array analysis.
CC   Miscellaneous: Cell line no longer available.
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C84524; 5' 10' methylenetetrahydrofolate reductase deficiency
DI   ORDO; Orphanet_395; Homocystinuria due to methylene tetrahydrofolate reductase deficiency
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   Children
CA   Finite cell line
DT   Created: 05-03-18; Last updated: 19-12-24; Version: 9
//
RX   Patent=US6528259;
RA   Rozen R., Goyette P.;
RT   "Methods for detecting human methylenetetrahydrofolate reductase
RT   allelic variants.";
RL   Patent number US6528259, 04-Mar-2003.
//
RX   PubMed=7726158; PMCID=PMC1801446;
RA   Goyette P., Frosst P., Rosenblatt D.S., Rozen R.;
RT   "Seven novel mutations in the methylenetetrahydrofolate reductase gene
RT   and genotype/phenotype correlations in severe
RT   methylenetetrahydrofolate reductase deficiency.";
RL   Am. J. Hum. Genet. 56:1052-1059(1995).
//
RX   PubMed=8940272; PMCID=PMC1914869;
RA   Goyette P., Christensen B., Rosenblatt D.S., Rozen R.;
RT   "Severe and mild mutations in cis for the methylenetetrahydrofolate
RT   reductase (MTHFR) gene, and description of five novel mutations in
RT   MTHFR.";
RL   Am. J. Hum. Genet. 59:1268-1275(1996).
//
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=24555846; DOI=10.1186/gb-2014-15-2-r37; PMCID=PMC4053980;
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; 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).
//