Home  |  Contact

Cellosaurus WG3354 (CVCL_UI03)

[Text version]
Cell line name WG3354
Accession CVCL_UI03
Resource Identification Initiative To cite this cell line use: WG3354 (RRID:CVCL_UI03)
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; p.Ser146Argfs*35 (c.435_436delAT); ClinVar=VCV001455466; Zygosity=Homozygous (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 Female
Age at sampling Children
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; Q98134916
Entry history
Entry creation25-Feb-2019
Last entry update29-Jun-2023
Version number8