Cellosaurus cell line WG2290 (CVCL

Cross-references
Cell line name	WG2290
Accession	CVCL_QZ36
Resource Identification Initiative	To cite this cell line use: WG2290 (RRID:CVCL_QZ36)
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:7468; MTR; Simple; p.His920Asp (c.2758C>G); ClinVar=VCV000014280; Zygosity=Unspecified (PubMed=8968737; PubMed=9235907).
Disease	Arakawa syndrome II (NCIt: C99081) Methylcobalamin deficiency type cblG (ORDO: Orphanet_2170)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Male
Category	Finite cell line
Publications	PubMed=8968737; DOI=10.1093/hmg/5.12.1867 Leclerc D., Campeau E., Goyette P., Adjalla C.-E., Christensen B., Ross M., Eydoux P., Rosenblatt D.S., Rozen R., Gravel R.A. Human methionine synthase: cDNA cloning and identification of mutations in patients of the cblG complementation group of folate/cobalamin disorders. Hum. Mol. Genet. 5:1867-1874(1996) PubMed=9235907; DOI=10.1074/jbc.272.31.19171 Gulati S., Chen Z.-Q., Brody L.C., Rosenblatt D.S., Banerjee R. Defects in auxiliary redox proteins lead to functional methionine synthase deficiency. J. Biol. Chem. 272:19171-19175(1997)
Encyclopedic resources	Wikidata; Q54993975
Entry history
Entry creation	05-Mar-2018
Last entry update	19-Dec-2024
Version number	9