Cellosaurus cell line WG2176 (CVCL

Cross-references
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; HGNC:24525; MMACHC; Simple; c.1-234A>G; Zygosity=Heterozygous (PubMed=19447654). Mutation; HGNC; 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; PMCID=PMC2709701 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)
Encyclopedic resources	Wikidata; Q98134911
Entry history
Entry creation	25-Feb-2019
Last entry update	19-Dec-2024
Version number	10