Cellosaurus cell line WG1836 (CVCL

Cellosaurus WG1836 (CVCL_QZ42)

Cross-references
Cell line name	WG1836
Accession	CVCL_QZ42
Resource Identification Initiative	To cite this cell line use: WG1836 (RRID:CVCL_QZ42)
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:7473; MTRR; Simple; p.Leu576del (c.1726_1728delTTG); ClinVar=VCV000007028; Zygosity=Heterozygous (PubMed=9501215).
Disease	Homocystinuria-megaloblastic anemia, cblE complementation type (NCIt: C142173) Methylcobalamin deficiency type cblE (ORDO: Orphanet_2169)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Female
Category	Finite cell line
Publications	PubMed=9501215; DOI=10.1073/pnas.95.6.3059; PMCID=PMC19694 Leclerc D., Wilson A., Dumas R., Gafuik C.J., Song D., Watkins D., Heng H.H.-Q., Rommens J.M., Scherer S.W., Rosenblatt D.S., Gravel R.A. Cloning and mapping of a cDNA for methionine synthase reductase, a flavoprotein defective in patients with homocystinuria. Proc. Natl. Acad. Sci. U.S.A. 95:3059-3064(1998) PubMed=10484769; DOI=10.1093/hmg/8.11.2009 Wilson A., Leclerc D., Rosenblatt D.S., Gravel R.A. Molecular basis for methionine synthase reductase deficiency in patients belonging to the cblE complementation group of disorders in folate/cobalamin metabolism. Hum. Mol. Genet. 8:2009-2016(1999)
Encyclopedic resources	Wikidata; Q54993934
Entry history
Entry creation	05-Mar-2018
Last entry update	19-Dec-2024
Version number	10