Cellosaurus logo
expasy logo

Cellosaurus WG1872 (CVCL_B5PD)

[Text version]
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
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)

Cross-references
Encyclopedic resources Wikidata; Q112041933
Entry history
Entry creation17-Mar-2022
Last entry update19-Dec-2024
Version number6