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Cellosaurus WG2006 (CVCL_RA71)

[Text version]
Cell line name WG2006
Synonyms 2006
Accession CVCL_RA71
Resource Identification Initiative To cite this cell line use: WG2006 (RRID:CVCL_RA71)
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.Gly387Asp (c.1160G>A); ClinVar=VCV002202702; Zygosity=Heterozygous (PubMed=10679944).
  • Mutation; HGNC; HGNC:7436; MTHFR; Simple; p.Glu586Lys (c.1756G>A); Zygosity=Heterozygous (PubMed=10679944).
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 14Y
Category Finite cell line
Publications

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)

PubMed=10679944; DOI=10.1002/(SICI)1098-1004(200003)15:3<280::AID-HUMU9>3.0.CO;2-I
Sibani S., Christensen B., O'Ferrall E., Saadi I., Hiou-Tim F., Rosenblatt D.S., Rozen R.
Characterization of six novel mutations in the methylenetetrahydrofolate reductase (MTHFR) gene in patients with homocystinuria.
Hum. Mutat. 15:280-287(2000)

Cross-references
Encyclopedic resources Wikidata; Q54993955
Entry history
Entry creation05-Mar-2018
Last entry update19-Dec-2024
Version number10