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Cellosaurus WG1772 (CVCL_B3VW)

[Text version]
Cell line name WG1772
Synonyms WG 1772; 1772
Accession CVCL_B3VW
Resource Identification Initiative To cite this cell line use: WG1772 (RRID:CVCL_B3VW)
Comments From: Montreal Children's Hospital cell repository; Montreal; Canada.
Population: Caucasian.
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; p.Arg51Pro (c.152G>C); Zygosity=Heterozygous (PubMed=8940272).
  • Mutation; HGNC; HGNC:7436; MTHFR; Simple; c.237-1G>T (c.249-1G>T); Zygosity=Heterozygous; Note=Splice acceptor mutation (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 Male
Age at sampling Children
Category Finite cell line
Publications

PubMed=1627352; DOI=10.1016/0885-4505(92)90029-x
David S. Rosenblatt, Helena Lue-Shing, A. Arzoumanian, Lawrence Low-Nang, Nora V. Matiaszuk;
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=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)

Cross-references
Encyclopedic resources Wikidata; Q110434064
Entry history
Entry creation16-Dec-2021
Last entry update19-Dec-2024
Version number5