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Cellosaurus WG0354 (CVCL_B3VN)

[Text version]
Cell line name WG0354
Synonyms WG 354; 354
Accession CVCL_B3VN
Resource Identification Initiative To cite this cell line use: WG0354 (RRID:CVCL_B3VN)
Comments From: Montreal Children's Hospital cell repository; Montreal; Canada.
Population: African American.
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
  • Mutation; HGNC; HGNC:7436; MTHFR; Simple; c.780+1G>A (c.792+1G>A); Zygosity=Heterozygous; Note=Splice donor mutation (PubMed=7726158; PubMed=8940272).
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 Female
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=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; Q110433999
Entry history
Entry creation16-Dec-2021
Last entry update19-Dec-2024
Version number5