Cellosaurus cell line WG3745 (CVCL

Cellosaurus WG3745 (CVCL_B4ER)

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 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) CLPUB00671 Isabelle Racine Miousse; 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