Cellosaurus cell line WG3205 (CVCL

Cellosaurus WG3205 (CVCL_B4AS)

Cross-references
Cell line name	WG3205
Accession	CVCL_B4AS
Resource Identification Initiative	To cite this cell line use: WG3205 (RRID:CVCL_B4AS)
Comments	From: Montreal Children's Hospital cell repository; Montreal; Canada. Population: African American. 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.Gly94Val (c.281G>T); ClinVar=VCV000657887; Zygosity=Heterozygous (PubMed=16281286). Mutation; HGNC; HGNC:7526; MMUT; Simple; p.Gly623Arg (c.1867G>A); ClinVar=VCV000001884; 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 Lisa C. Worgan, Kirsten Niles, Jamie C. Tirone, Adam Hofmann, Andrei Verner, Alya'a Sammak, Terrence Kucic, Pierre Lepage, David S. Rosenblatt; 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 Isabelle Racine Miousse, David Watkins, David Coelho, Tony Rupar, Eric Albert Crombez, Eric Vilain, Jonathan A. Bernstein, Tina Cowan, Christopher Lee-Messer, Gregory M. Enns, Brian Fowler, David S. Rosenblatt; Clinical and molecular heterogeneity in patients with the cblD inborn error of cobalamin metabolism. J. Pediatr. 154:551-556(2009)
Encyclopedic resources	Wikidata; Q110434279
Entry history
Entry creation	16-Dec-2021
Last entry update	19-Dec-2024
Version number	5