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Cellosaurus WG1627 (CVCL_RA64)

[Text version]
Cell line name WG1627
Synonyms WG 1627; 1627
Accession CVCL_RA64
Resource Identification Initiative To cite this cell line use: WG1627 (RRID:CVCL_RA64)
Comments From: Montreal Children's Hospital cell repository; Montreal; Canada.
Population: Native North American; Choctaw.
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=7920641; DOI=10.1038/ng0694-195
Philippe Goyette, James S. Sumner, Renate Milos, Alessandra M.V. Duncan, David S. Rosenblatt, Rowena Green Matthews, Rima Rozen;
Human methylenetetrahydrofolate reductase: isolation of cDNA, mapping and mutation identification.
Nat. Genet. 7:195-200(1994)

PubMed=7726158; PMCID=PMC1801446
Philippe Goyette, Phyllis Frosst, David S. Rosenblatt, Rima Rozen;
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
Philippe Goyette, Benedicte Christensen, David S. Rosenblatt, Rima Rozen;
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
Rima Rozen, Philippe Goyette;
Methods for detecting human methylenetetrahydrofolate reductase allelic variants.
Patent number US6528259, 04-Mar-2003

Cross-references
Encyclopedic resources Wikidata; Q54993906
Entry history
Entry creation05-Mar-2018
Last entry update19-Dec-2024
Version number10