Cellosaurus cell line WG2658 (CVCL

Cross-references
Cell line name	WG2658
Accession	CVCL_B4CH
Resource Identification Initiative	To cite this cell line use: WG2658 (RRID:CVCL_B4CH)
Comments	From: Montreal Children's Hospital cell repository; Montreal; Canada. Population: Caucasian. Miscellaneous: Cell line no longer available. Miscellaneous: Second MMUT mutation was not detected. 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.Gln18Ter (c.52C>T); ClinVar=VCV000001877; Zygosity=Heterozygous (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)
Age at sampling	Children
Category	Finite cell line
Publications	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; Q110434173
Entry history
Entry creation	16-Dec-2021
Last entry update	19-Dec-2024
Version number	5