ID   WG1772
AC   CVCL_B3VW
SY   WG 1772; 1772
DR   Wikidata; Q110434064
RX   PubMed=1627352;
RX   PubMed=8940272;
CC   From: Montreal Children's Hospital cell repository; Montreal; Canada.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:7436; MTHFR; Simple; p.Arg51Pro (c.152G>C); Zygosity=Heterozygous (PubMed=8940272).
CC   Sequence variation: Mutation; HGNC; HGNC:7436; MTHFR; Simple; c.237-1G>T (c.249-1G>T); Zygosity=Heterozygous; Note=Splice acceptor mutation (PubMed=8940272).
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: 16-12-21; Last updated: 19-12-24; Version: 5
//
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=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).
//