Cellosaurus cell line WG0356 (CVCL

Cellosaurus WG0356 (CVCL_B3VY)

Cross-references
Cell line name	WG0356
Synonyms	WG 356; 356
Accession	CVCL_B3VY
Resource Identification Initiative	To cite this cell line use: WG0356 (RRID:CVCL_B3VY)
Comments	From: Montreal Children's Hospital cell repository; Montreal; Canada. Population: Caucasian; Italian. 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.Arg325Cys (c.973C>T); ClinVar=VCV000975600; Zygosity=Homozygous (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	Male
Category	Finite cell line
Publications	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
Encyclopedic resources	Wikidata; Q110434001
Entry history
Entry creation	16-Dec-2021
Last entry update	19-Dec-2024
Version number	5