Cellosaurus cell line WG3745 (CVCL

Cross-references
Cell line name	WG3745
Accession	CVCL_B4ER
Resource Identification Initiative	To cite this cell line use: WG3745 (RRID:CVCL_B4ER)
Comments	From: Montreal Children's Hospital cell repository; Montreal; Canada. Population: Mexican. 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:25221; MMADHC; Simple; p.Asp246Gly (c.737A>G); ClinVar=VCV000839892; Zygosity=Homozygous (CelloPub=CLPUB00671; PubMed=19058814).
Disease	Methylmalonic aciduria and homocystinuria, cblD type (NCIt: C183524) Methylmalonic acidemia with homocystinuria, type cblD (ORDO: Orphanet_79283)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Female
Age at sampling	Children
Category	Finite cell line
Publications	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) CLPUB00671 Miousse I.R. Investigations into the early steps of cobalamin metabolism. Thesis PhD (2011); McGill University Montreal; Montreal; Canada
Encyclopedic resources	Wikidata; Q110434381
Entry history
Entry creation	16-Dec-2021
Last entry update	19-Dec-2024
Version number	5