Cellosaurus cell line DUK84629 (CVCL

Cellosaurus DUK84629 (CVCL_F1W2)

Entry history
Cell line name	DUK84629
Accession	CVCL_F1W2
Resource Identification Initiative	To cite this cell line use: DUK84629 (RRID:CVCL_F1W2)
Comments	Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV). Donor information: No information is provided on the patient sex, age and exact disease status. Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations	Mutation; HGNC; HGNC:7436; MTHFR; Simple; p.Ala222Val (c.665C>T) (C677T); ClinVar=VCV000003520; Zygosity=Homozygous (PubMed=16166172).
Disease	Methylmalonic aciduria and homocystinuria, cblJ type (NCIt: C183526) Methylmalonic acidemia with homocystinuria, type cblJ (ORDO: Orphanet_369955)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Sex unspecified
Age at sampling	Age unspecified
Category	Transformed cell line
Publications	PubMed=16166172; DOI=10.1373/clinchem.2005.048694 Susan H. Bernacki, Jeanne C. Beck, Ana K. Stankovic, Laurina O. Williams, Jean Amos Wilson, Karen Snow-Bailey, Daniel H. Farkas, Michael J. Friez, Feras M. Hantash, Karla J. Matteson, Kristin G. Monaghan ...Show all 26 authors... , Kasinathan Muralidharan, Victoria M. Pratt, Thomas W. Prior, Kristy L. Richie, Barbara C. Levin, Elizabeth M. Rohlfs, Frederick V. Schaefer, Antony E. Shrimpton, Elaine B. Spector, Catherine A. Stolle, Charles M. Strom, Stephen N. Thibodeau, Eugene C. Cole, Barbara K. Goodman, Timothy T. Stenzel; Show fewer authors Genetically characterized positive control cell lines derived from residual clinical blood samples. Clin. Chem. 51:2013-2024(2005)
Entry creation	27-Nov-2025
Last entry update	27-Nov-2025
Version number	1