Cellosaurus cell line WG2317 (CVCL

Cross-references
Cell line name	WG2317
Accession	CVCL_QZ39
Resource Identification Initiative	To cite this cell line use: WG2317 (RRID:CVCL_QZ39)
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.Arg114Ter (c.340C>T); ClinVar=VCV000666994; Zygosity=Heterozygous (PubMed=10484769). Mutation; HGNC; HGNC:7473; MTRR; Simple; c.903+469T>C; ClinVar=VCV000662553; Zygosity=Heterozygous (PubMed=10484769).
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)
Category	Finite cell line
Publications	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; Q54993978
Entry history
Entry creation	05-Mar-2018
Last entry update	19-Dec-2024
Version number	10