Cellosaurus logo
expasy logo

Cellosaurus WG1834 (CVCL_RA68)

[Text version]
Cell line name WG1834
Synonyms WG 1834; 1834
Accession CVCL_RA68
Resource Identification Initiative To cite this cell line use: WG1834 (RRID:CVCL_RA68)
Comments From: Montreal Children's Hospital cell repository; Montreal; Canada.
Population: Caucasian; French Canadian.
Miscellaneous: Cell line no longer available.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
Disease 5' 10' methylenetetrahydrofolate reductase deficiency (NCIt: C84524)
Homocystinuria due to methylene tetrahydrofolate reductase deficiency (ORDO: Orphanet_395)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 37Y
Category Finite cell line
Publications

PubMed=1627352; DOI=10.1016/0885-4505(92)90029-x
Rosenblatt D.S., Lue-Shing H., Arzoumanian A., Low-Nang L., Matiaszuk N.V.
Methylenetetrahydrofolate reductase (MR) deficiency: thermolability of residual MR activity, methionine synthase activity, and methylcobalamin levels in cultured fibroblasts.
Biochem. Med. Metab. Biol. 47:221-225(1992)

PubMed=7920641; DOI=10.1038/ng0694-195
Goyette P., Sumner J.S., Milos R., Duncan A.M.V., Rosenblatt D.S., Matthews R.G., Rozen R.
Human methylenetetrahydrofolate reductase: isolation of cDNA, mapping and mutation identification.
Nat. Genet. 7:195-200(1994)

PubMed=7726158; PMCID=PMC1801446
Goyette P., Frosst P., Rosenblatt D.S., Rozen R.
Seven novel mutations in the methylenetetrahydrofolate reductase gene and genotype/phenotype correlations in severe methylenetetrahydrofolate reductase deficiency.
Am. J. Hum. Genet. 56:1052-1059(1995)

PubMed=8940272; PMCID=PMC1914869
Goyette P., Christensen B., Rosenblatt D.S., Rozen R.
Severe and mild mutations in cis for the methylenetetrahydrofolate reductase (MTHFR) gene, and description of five novel mutations in MTHFR.
Am. J. Hum. Genet. 59:1268-1275(1996)

PubMed=10679944; DOI=10.1002/(SICI)1098-1004(200003)15:3<280::AID-HUMU9>3.0.CO;2-I
Sibani S., Christensen B., O'Ferrall E., Saadi I., Hiou-Tim F., Rosenblatt D.S., Rozen R.
Characterization of six novel mutations in the methylenetetrahydrofolate reductase (MTHFR) gene in patients with homocystinuria.
Hum. Mutat. 15:280-287(2000)

Patent=US6528259
Rozen R., Goyette P.
Methods for detecting human methylenetetrahydrofolate reductase allelic variants.
Patent number US6528259, 04-Mar-2003

Cross-references
Encyclopedic resources Wikidata; Q54993933
Entry history
Entry creation05-Mar-2018
Last entry update19-Dec-2024
Version number12