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Cellosaurus WG1872 (CVCL_B5PD)

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Cell line name WG1872
Synonyms 1872
Accession CVCL_B5PD
Resource Identification Initiative To cite this cell line use: WG1872 (RRID:CVCL_B5PD)
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.Arg567Ter (c.1699C>T); ClinVar=VCV000660609; Zygosity=Heterozygous (from familial inference of WG1779; WG1871).
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling Adult
Category Finite cell line
Publications

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; Q112041933
Entry history
Entry creation17-Mar-2022
Last entry update19-Dec-2024
Version number6