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Cellosaurus WG2184 (CVCL_RA72)

[Text version]
Cell line name WG2184
Accession CVCL_RA72
Resource Identification Initiative To cite this cell line use: WG2184 (RRID:CVCL_RA72)
Comments From: Montreal Children's Hospital cell repository; Montreal; Canada.
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.Ala116Thr (c.346G>A); ClinVar=VCV001333614; Zygosity=Heterozygous (PubMed=10679944).
  • Mutation; HGNC; HGNC:7436; MTHFR; Simple; p.Tyr374Ter (c.1122C>G); 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 Sex unspecified
Age at sampling 16Y
Category Finite cell line
Publications

PubMed=10679944; DOI=10.1002/(SICI)1098-1004(200003)15:3<280::AID-HUMU9>3.0.CO;2-I
Sahar Sibani, Benedicte Christensen, Erin O'Ferrall, Irfan Saadi, Francois Hiou-Tim, David S. Rosenblatt, Rima Rozen;
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; Q54993965
Entry history
Entry creation05-Mar-2018
Last entry update19-Dec-2024
Version number11