Cellosaurus cell line WG1892 (CVCL

Cellosaurus WG1892 (CVCL_QZ35)

Cross-references
Cell line name	WG1892
Accession	CVCL_QZ35
Resource Identification Initiative	To cite this cell line use: WG1892 (RRID:CVCL_QZ35)
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.Ile881del (c.2640_2642delAAT); ClinVar=VCV000014279; Zygosity=Heterozygous (PubMed=9235907). Mutation; HGNC; HGNC:7468; MTR; Simple; p.Pro1173Leu (c.3518C>T); ClinVar=VCV000014278; Zygosity=Heterozygous (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
Age at sampling	4Y
Category	Finite cell line
Publications	PubMed=8968737; DOI=10.1093/hmg/5.12.1867 Daniel Leclerc, Eric Campeau, Philippe Goyette, Charles-Edgar Adjalla, Benedicte Christensen, Mark Ross, Patrice Eydoux, David S. Rosenblatt, Rima Rozen, Roy A. Gravel; 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 Sumedha Gulati, Zhi-Qiang Chen, Lawrence C. Brody, David S. Rosenblatt, Ruma Banerjee; Defects in auxiliary redox proteins lead to functional methionine synthase deficiency. J. Biol. Chem. 272:19171-19175(1997)
Encyclopedic resources	Wikidata; Q54993936
Entry history
Entry creation	05-Mar-2018
Last entry update	19-Dec-2024
Version number	12