Cellosaurus cell line WG1437 (CVCL

Cellosaurus WG1437 (CVCL_B4EN)

Cross-references
Cell line name	WG1437
Accession	CVCL_B4EN
Resource Identification Initiative	To cite this cell line use: WG1437 (RRID:CVCL_B4EN)
Comments	From: Montreal Children's Hospital cell repository; Montreal; Canada. Population: Caribbean; Haitian. 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.Arg54Ter (c.160C>T); ClinVar=VCV000000765; Zygosity=Heterozygous (PubMed=18385497). Mutation; HGNC; HGNC:25221; MMADHC; Simple; p.Leu103_Ser108dup (c.307_324dup); ClinVar=VCV000000766; Zygosity=Heterozygous (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=2339678; DOI=10.1002/ajh.2830340207 Bernard A. Cooper, David S. Rosenblatt, David Watkins; Methylmalonic aciduria due to a new defect in adenosylcobalamin accumulation by cells. Am. J. Hematol. 34:115-120(1990) PubMed=18385497; DOI=10.1056/NEJMoa072200 David Coelho, Terttu Suormala, Martin Stucki, Jordan P. Lerner-Ellis, David S. Rosenblatt, Robert F. Newbold, Matthias R. Baumgartner, Brian Fowler; Gene identification for the cblD defect of vitamin B12 metabolism. N. Engl. J. Med. 358:1454-1464(2008) 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; Q110434033
Entry history
Entry creation	16-Dec-2021
Last entry update	19-Dec-2024
Version number	5