Cellosaurus cell line WG1767 (CVCL

Cellosaurus WG1767 (CVCL_B3VV)

Cross-references
Cell line name	WG1767
Synonyms	WG 1767; 1767
Accession	CVCL_B3VV
Resource Identification Initiative	To cite this cell line use: WG1767 (RRID:CVCL_B3VV)
Comments	From: Montreal Children's Hospital cell repository; Montreal; Canada. Population: African American and 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.Leu323Pro (c.968T>C); ClinVar=VCV000003529; Zygosity=Heterozygous (PubMed=8940272). Mutation; HGNC; HGNC:7436; MTHFR; Simple; p.Arg377Cys (c.1129C>T); ClinVar=VCV000003528; Zygosity=Heterozygous (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 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)
Encyclopedic resources	Wikidata; Q110434062
Entry history
Entry creation	16-Dec-2021
Last entry update	19-Dec-2024
Version number	5