Cellosaurus cell line WG3293 (CVCL

Cross-references
Cell line name	WG3293
Accession	CVCL_B3UI
Resource Identification Initiative	To cite this cell line use: WG3293 (RRID:CVCL_B3UI)
Comments	From: Montreal Children's Hospital cell repository; Montreal; Canada. 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:19331; MMAB; Simple; c.197-1G>T; ClinVar=VCV000219008; Zygosity=Homozygous; Note=Splice acceptor mutation (CelloPub=CLPUB00662).
Disease	Methylmalonic aciduria, cblB type (NCIt: C142172) Vitamin B12-responsive methylmalonic acidemia type cblB (ORDO: Orphanet_79311)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Category	Finite cell line
Publications	CLPUB00662 Yamani L. Studies on transcobalamin in cultured fibroblasts from patients with inborn errors of cobalamin metabolism. Thesis PhD (2008); McGill University Montreal; Montreal; Canada 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; Q110434295
Entry history
Entry creation	16-Dec-2021
Last entry update	19-Dec-2024
Version number	5