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Cellosaurus IFAR-632/2 (CVCL_UI91)

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Cell line name IFAR-632/2
Synonyms IFAR 632/2; FA32
Accession CVCL_UI91
Resource Identification Initiative To cite this cell line use: IFAR-632/2 (RRID:CVCL_UI91)
Comments Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:1101; BRCA2; Simple; c.631+1G>A (IVS7+1G>A); ClinVar=VCV000009348; Zygosity=Heterozygous; Note=Splice donor mutation (PubMed=15004464).
  • Mutation; HGNC; HGNC:1101; BRCA2; Simple; p.Tyr1894Ter (c.5682C>G) (5910C>G); ClinVar=VCV000037989; Zygosity=Heterozygous (PubMed=15004464).
Disease Fanconi anemia, complementation group D1 (NCIt: C125705)
Fanconi anemia (ORDO: Orphanet_84)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Category Transformed cell line
Publications

PubMed=15004464; DOI=10.1159/000076289
H. Popp, Reinhard Kalb, Alain Fischer, Stephan Lobitz, Indira Kokemohr, Helmut Hanenberg, Detlev Schindler;
Screening Fanconi anemia lymphoid cell lines of non-A, C, D2, E, F, G subtypes for defects in BRCA2/FANCD1.
Cytogenet. Genome Res. 103:54-57(2003)

Cross-references
Encyclopedic resources Wikidata; Q93549304
Entry history
Entry creation25-Feb-2019
Last entry update19-Dec-2024
Version number10