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Cellosaurus EUFA423F (CVCL_AK16)

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Cell line name EUFA423F
Synonyms EUFA423
Accession CVCL_AK16
Resource Identification Initiative To cite this cell line use: EUFA423F (RRID:CVCL_AK16)
Comments Transformant: NCBI_TaxID; 1891767; Simian virus 40 (SV40).
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:1101; BRCA2; Simple; p.Asp2489Terfs (c.7464_7465insTA) (7691insAT); Zygosity=Heterozygous (PubMed=12065746).
  • Mutation; HGNC; 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_G068 ! EUFA423L
Sex of cell Female
Age at sampling 3Y
Category Transformed cell line
Publications

PubMed=12065746; DOI=10.1126/science.1073834
Niall G. Howlett, Toshiyasu Taniguchi, Susan Olson, Barbara Cox, Quinten Waisfisz, Christine E.M. de Die-Smulders, Nicole Persky, Markus Grompe, Hans Joenje, Gerard Pals, Hideyuki Ikeda ...Show all 13 authors... , Edward A. Fox, Alan David D'Andrea; Show fewer authors
Biallelic inactivation of BRCA2 in Fanconi anemia.
Science 297:606-609(2002)

PubMed=22152194; DOI=10.1186/2041-9414-2-9; PMCID=PMC3264516
Ester Sapir, Yaghoub Gozaly-Chianea, Suliman Al-Wahiby, Sainu Ravindran, Hemad Yasaei, Predrag Slijepcevic;
Effects of BRCA2 deficiency on telomere recombination in non-ALT and ALT cells.
Genome Integr. 2:9.1-9.7(2011)

Cross-references
Encyclopedic resources Wikidata; Q54832911
Entry history
Entry creation02-May-2016
Last entry update19-Dec-2024
Version number11