Cellosaurus cell line WG3191 (CVCL

Cellosaurus WG3191 (CVCL_B4BP)

Cross-references
Cell line name	WG3191
Accession	CVCL_B4BP
Resource Identification Initiative	To cite this cell line use: WG3191 (RRID:CVCL_B4BP)
Comments	From: Montreal Children's Hospital cell repository; Montreal; Canada. Population: Asian. 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.Asp244Leufs*39 (c.729_730insTT); ClinVar=VCV000552079; Zygosity=Heterozygous (PubMed=16281286). Mutation; HGNC; HGNC:7526; MMUT; Simple; p.Leu305Ser (c.914T>C); ClinVar=VCV000556865; 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) PubMed=19058814; DOI=10.1016/j.jpeds.2008.10.043 Miousse I.R., Watkins D., Coelho D., Rupar T., Crombez E.A., Vilain E., Bernstein J.A., Cowan T., Lee-Messer C., Enns G.M., Fowler B., Rosenblatt D.S. Clinical and molecular heterogeneity in patients with the cblD inborn error of cobalamin metabolism. J. Pediatr. 154:551-556(2009)
Encyclopedic resources	Wikidata; Q110434275
Entry history
Entry creation	16-Dec-2021
Last entry update	19-Dec-2024
Version number	5