Cellosaurus cell line WG1958 (CVCL

Cellosaurus WG1958 (CVCL_B3WM)

Cross-references
Cell line name	WG1958
Accession	CVCL_B3WM
Resource Identification Initiative	To cite this cell line use: WG1958 (RRID:CVCL_B3WM)
Comments	From: Montreal Children's Hospital cell repository; Montreal; Canada. Population: Caucasian; Italian. 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; 7526; MMUT; Simple; p.Leu685Arg (c.2054T>G); ClinVar=VCV000218995; Zygosity=Homozygous (PubMed=9554742; 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	Children
Category	Finite cell line
Publications	PubMed=9554742; DOI=10.1002/(SICI)1098-1004(1998)11:4<270::AID-HUMU3>3.0.CO;2-T Adjalla C.-E., Hosack A.R., Gilfix B.M., Lamothe E., Sun S., Chan A., Evans S., Matiaszuk N.V., Rosenblatt D.S. Seven novel mutations in mut methylmalonic aciduria. Hum. Mutat. 11:270-274(1998) 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) CLPUB00668 Anastasio N. Allelic expression of MMACHC and evidence for genotype-phenotype correlations in cblC disease. Thesis MSc (2010); McGill University Montreal; Montreal; Canada
Encyclopedic resources	Wikidata; Q110434077
Entry history
Entry creation	16-Dec-2021
Last entry update	29-Jun-2023
Version number	4