Cellosaurus cell line WG1220 (CVCL

Cross-references
Cell line name	WG1220
Accession	CVCL_B4EM
Resource Identification Initiative	To cite this cell line use: WG1220 (RRID:CVCL_B4EM)
Comments	From: Montreal Children's Hospital cell repository; Montreal; Canada. Population: Hispanic. 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.Arg250Ter (c.748C>T); ClinVar=VCV000000767; Zygosity=Homozygous (PubMed=18385497).
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	Male
Age at sampling	Children
Category	Finite cell line
Publications	PubMed=18385497; DOI=10.1056/NEJMoa072200 Coelho D., Suormala T., Stucki M., Lerner-Ellis J.P., Rosenblatt D.S., Newbold R.F., Baumgartner M.R., Fowler B. Gene identification for the cblD defect of vitamin B12 metabolism. N. Engl. J. Med. 358:1454-1464(2008)
Encyclopedic resources	Wikidata; Q110434025
Entry history
Entry creation	16-Dec-2021
Last entry update	19-Dec-2024
Version number	5