Cellosaurus logo
expasy logo

Cellosaurus WG0670 (CVCL_B3VR)

[Text version]
Cell line name WG0670
Synonyms WG 670; 670
Accession CVCL_B3VR
Resource Identification Initiative To cite this cell line use: WG0670 (RRID:CVCL_B3VR)
Comments From: Montreal Children's Hospital cell repository; Montreal; Canada.
Population: Japanese.
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.Gly149Val (c.446_447delinsTT) (458_459GC>TT); ClinVar=VCV000848483; Zygosity=Homozygous (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
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; Q110434011
Entry history
Entry creation16-Dec-2021
Last entry update19-Dec-2024
Version number5