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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
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=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)

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