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Cellosaurus EUFA423L (CVCL_G068)

[Text version]
Cell line name EUFA423L
Synonyms EUFA423
Accession CVCL_G068
Resource Identification Initiative To cite this cell line use: EUFA423L (RRID:CVCL_G068)
Comments Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; 1101; BRCA2; Simple; p.Asp2489Terfs (c.7464_7465insTA) (7691insAT); Zygosity=Heterozygous (PubMed=12065746).
  • Mutation; HGNC; 1101; BRCA2; Simple; p.Tyr3225Ilefs*30 (c.9672dupA) (9900insA); ClinVar=VCV000126217; Zygosity=Heterozygous (PubMed=12065746).
Disease Fanconi anemia, complementation group D1 (NCIt: C125705)
Fanconi anemia (ORDO: Orphanet_84)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual CVCL_AK16 ! EUFA423F
Sex of cell Female
Age at sampling 3Y
Category Transformed cell line
Publications

PubMed=10468606; DOI=10.1073/pnas.96.18.10320
Waisfisz Q., de Winter J.P., Kruyt F.A.E., de Groot J., van der Weel L., Dijkmans L.M., Zhi Y., Arwert F., Scheper R.J., Youssoufian H., Hoatlin M.E., Joenje H.
A physical complex of the Fanconi anemia proteins FANCG/XRCC9 and FANCA.
Proc. Natl. Acad. Sci. U.S.A. 96:10320-10325(1999)

PubMed=12065746; DOI=10.1126/science.1073834
Howlett N.G., Taniguchi T., Olson S., Cox B., Waisfisz Q., de Die-Smulders C.E.M., Persky N., Grompe M., Joenje H., Pals G., Ikeda H., Fox E.A., D'Andrea A.D.
Biallelic inactivation of BRCA2 in Fanconi anemia.
Science 297:606-609(2002)

Cross-references
Encyclopedic resources Wikidata; Q54832912
Entry history
Entry creation11-Feb-2013
Last entry update29-Jun-2023
Version number12