Cellosaurus cell line WG1130 (CVCL

Cellosaurus WG1130 (CVCL_0F56)

Cross-references
Cell line name	WG1130
Synonyms	WG 1130
Accession	CVCL_0F56
Resource Identification Initiative	To cite this cell line use: WG1130 (RRID:CVCL_0F56)
Comments	From: Montreal Children's Hospital cell repository; Montreal; Canada. Population: Caucasian; French Canadian. 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:7526; MMUT; Simple; p.Arg93His (c.278G>A); ClinVar=VCV000001880; Zygosity=Homozygous (PubMed=7909321; PubMed=16281286).
Disease	Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency (NCIt: C148366) Vitamin B12-unresponsive methylmalonic acidemia (ORDO: Orphanet_27)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Female
Age at sampling	<5M
Category	Finite cell line
Publications	PubMed=7909321; DOI=10.1172/JCI117166; PMCID=PMC294249 Qureshi A.A., Crane A.M., Matiaszuk N.V., Rezvani I., Ledley F.D., Rosenblatt D.S. Cloning and expression of mutations demonstrating intragenic complementation in mut0 methylmalonic aciduria. J. Clin. Invest. 93:1812-1819(1994) PubMed=16281286; DOI=10.1002/humu.20258 Worgan L.C., Niles K., Tirone J.C., Hofmann A., Verner A., Sammak A., Kucic T., Lepage P., Rosenblatt D.S. Spectrum of mutations in mut methylmalonic acidemia and identification of a common Hispanic mutation and haplotype. Hum. Mutat. 27:31-43(2006)
Encyclopedic resources	Wikidata; Q54993850
Entry history
Entry creation	10-Apr-2015
Last entry update	19-Dec-2024
Version number	13