Cellosaurus cell line WG1794 (CVCL

Cross-references
Cell line name	WG1794
Accession	CVCL_RA66
Resource Identification Initiative	To cite this cell line use: WG1794 (RRID:CVCL_RA66)
Comments	From: Montreal Children's Hospital cell repository; Montreal; Canada. Population: Pakistani. 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:7436; MTHFR; Simple; p.Lys584Ter (c.1750A>T); ClinVar=VCV001066378; Zygosity=Homozygous (PubMed=10679944).
Disease	5' 10' methylenetetrahydrofolate reductase deficiency (NCIt: C84524) Homocystinuria due to methylene tetrahydrofolate reductase deficiency (ORDO: Orphanet_395)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Male
Age at sampling	29D
Category	Finite cell line
Publications	PubMed=10679944; DOI=10.1002/(SICI)1098-1004(200003)15:3<280::AID-HUMU9>3.0.CO;2-I Sibani S., Christensen B., O'Ferrall E., Saadi I., Hiou-Tim F., Rosenblatt D.S., Rozen R. Characterization of six novel mutations in the methylenetetrahydrofolate reductase (MTHFR) gene in patients with homocystinuria. Hum. Mutat. 15:280-287(2000)
Encyclopedic resources	Wikidata; Q54993928
Entry history
Entry creation	05-Mar-2018
Last entry update	19-Dec-2024
Version number	11