Cellosaurus logo
expasy logo

Cellosaurus WG1084 (CVCL_RA62)

[Text version]
Cell line name WG1084
Synonyms WG 1084; 1084
Accession CVCL_RA62
Resource Identification Initiative To cite this cell line use: WG1084 (RRID:CVCL_RA62)
Comments From: Montreal Children's Hospital cell repository; Montreal; Canada.
Population: Caucasian.
Omics: SNP array analysis.
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 Children
Category Finite cell line
Publications

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)

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

PubMed=21418647; DOI=10.1186/gb-2011-12-3-r25; PMCID=PMC3129675
Morcos L., Ge B., Koka V., Lam K.C.L., Pokholok D.K., Gunderson K.L., Montpetit A., Verlaan D.J., Pastinen T.
Genome-wide assessment of imprinted expression in human cells.
Genome Biol. 12:R25.1-R25.14(2011)

PubMed=24555846; DOI=10.1186/gb-2014-15-2-r37; PMCID=PMC4053980
Wagner J.R., Busche S., Ge B., Kwan T., Pastinen T., Blanchette M.
The relationship between DNA methylation, genetic and expression inter-individual variation in untransformed human fibroblasts.
Genome Biol. 15:R37.1-R37.17(2014)

PubMed=25326100; DOI=10.15252/msb.20145114; PMCID=PMC4299376
Adoue V., Schiavi A., Light N., Almlof J.C., Lundmark P., Ge B., Kwan T., Caron M., Ronnblom L., Wang C., Chen S.-H., Goodall A.H., Cambien F., Deloukas P., Ouwehand W.H., Syvanen A.-C., Pastinen T.
Allelic expression mapping across cellular lineages to establish impact of non-coding SNPs.
Mol. Syst. Biol. 10:754-754(2014)

Cross-references
Encyclopedic resources Wikidata; Q54993849
Gene expression databases GEO; GSM651138
GEO; GSM651139
GEO; GSM1266935
GEO; GSM1267024
Entry history
Entry creation05-Mar-2018
Last entry update19-Dec-2024
Version number9