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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
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)

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; Q54993906
Entry history
Entry creation05-Mar-2018
Last entry update19-Dec-2024
Version number10