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Cellosaurus WG2176 (CVCL_UI02)

[Text version]
Cell line name WG2176
Accession CVCL_UI02
Resource Identification Initiative To cite this cell line use: WG2176 (RRID:CVCL_UI02)
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; 24525; MMACHC; Simple; c.1-234A>G; Zygosity=Heterozygous (PubMed=19447654).
  • Mutation; HGNC; 24525; MMACHC; Simple; p.Trp203Ter (c.609G>A); ClinVar=VCV000030800; Zygosity=Heterozygous (PubMed=19447654).
Disease Methylmalonic aciduria and homocystinuria, cblC type (NCIt: C142174)
Methylmalonic acidemia with homocystinuria, type cblC (ORDO: Orphanet_79282)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 7M
Category Finite cell line
Publications

PubMed=19447654; DOI=10.1016/j.ymgme.2009.04.005
Hannibal L., Kim J., Brasch N.E., Wang S.-H., Rosenblatt D.S., Banerjee R., Jacobsen D.W.
Processing of alkylcobalamins in mammalian cells: a role for the MMACHC (cblC) gene product.
Mol. Genet. Metab. 97:260-266(2009)

Cross-references
Encyclopedic resources Wikidata; Q98134911
Entry history
Entry creation25-Feb-2019
Last entry update29-Jun-2023
Version number9