ID   IFAR-632/2
AC   CVCL_UI91
SY   IFAR 632/2; FA32
DR   Wikidata; Q93549304
RX   PubMed=15004464;
CC   Sequence variation: Mutation; HGNC; HGNC:1101; BRCA2; Simple; c.631+1G>A (IVS7+1G>A); ClinVar=VCV000009348; Zygosity=Heterozygous; Note=Splice donor mutation (PubMed=15004464).
CC   Sequence variation: Mutation; HGNC; HGNC:1101; BRCA2; Simple; p.Tyr1894Ter (c.5682C>G) (5910C>G); ClinVar=VCV000037989; Zygosity=Heterozygous (PubMed=15004464).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C125705; Fanconi anemia, complementation group D1
DI   ORDO; Orphanet_84; Fanconi anemia
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
CA   Transformed cell line
DT   Created: 25-02-19; Last updated: 19-12-24; Version: 10
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RX   PubMed=15004464; DOI=10.1159/000076289;
RA   Popp H., Kalb R., Fischer A., Lobitz S., Kokemohr I., Hanenberg H.,
RA   Schindler D.;
RT   "Screening Fanconi anemia lymphoid cell lines of non-A, C, D2, E, F, G
RT   subtypes for defects in BRCA2/FANCD1.";
RL   Cytogenet. Genome Res. 103:54-57(2003).
//