ID   WG1779
AC   CVCL_RA65
SY   WG 1779; 1779
DR   Wikidata; Q54993927
RX   Patent=US6528259;
RX   PubMed=1627352;
RX   PubMed=7726158;
RX   PubMed=7920641;
RX   PubMed=8940272;
RX   PubMed=10679944;
CC   From: Montreal Children's Hospital cell repository; Montreal; Canada.
CC   Population: Caucasian; French Canadian.
CC   Sequence variation: Mutation; HGNC; HGNC:7436; MTHFR; Simple; p.Arg157Gln (c.470G>A); ClinVar=VCV000003519; Zygosity=Heterozygous (PubMed=7726158; PubMed=8940272; PubMed=10679944).
CC   Sequence variation: Mutation; HGNC; HGNC:7436; MTHFR; Simple; p.Arg567Ter (c.1699C>T); ClinVar=VCV000660609; Zygosity=Heterozygous (PubMed=10679944).
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   Adult
CA   Finite cell line
DT   Created: 05-03-18; Last updated: 19-12-24; Version: 12
//
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=1627352; DOI=10.1016/0885-4505(92)90029-x;
RA   Rosenblatt D.S., Lue-Shing H., Arzoumanian A., Low-Nang L.,
RA   Matiaszuk N.V.;
RT   "Methylenetetrahydrofolate reductase (MR) deficiency: thermolability
RT   of residual MR activity, methionine synthase activity, and
RT   methylcobalamin levels in cultured fibroblasts.";
RL   Biochem. Med. Metab. Biol. 47:221-225(1992).
//
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=7920641; DOI=10.1038/ng0694-195;
RA   Goyette P., Sumner J.S., Milos R., Duncan A.M.V., Rosenblatt D.S.,
RA   Matthews R.G., Rozen R.;
RT   "Human methylenetetrahydrofolate reductase: isolation of cDNA, mapping
RT   and mutation identification.";
RL   Nat. Genet. 7:195-200(1994).
//
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=10679944; DOI=10.1002/(SICI)1098-1004(200003)15:3<280::AID-HUMU9>3.0.CO;2-I;
RA   Sibani S., Christensen B., O'Ferrall E., Saadi I., Hiou-Tim F.,
RA   Rosenblatt D.S., Rozen R.;
RT   "Characterization of six novel mutations in the
RT   methylenetetrahydrofolate reductase (MTHFR) gene in patients with
RT   homocystinuria.";
RL   Hum. Mutat. 15:280-287(2000).
//