ID   EUFA1341
AC   CVCL_D7EG
SY   EUFA1341-F SV40
DR   EFO; EFO_0022524
RX   PubMed=17200672;
RX   PubMed=28319063;
CC   Sequence variation: Mutation; HGNC; HGNC:26144; PALB2; Simple; p.Tyr551Ter (c.1653T>A); ClinVar=VCV000001243; Zygosity=Heterozygous (PubMed=17200672).
CC   Sequence variation: Mutation; HGNC; HGNC:26144; PALB2; Unexplicit; Ex4del; Zygosity=Heterozygous (PubMed=17200672).
CC   Genetic integration: Method=Transfection; Gene=UniProtKB; P03070; SV40 large T antigen.
CC   Transformant: NCBI_TaxID; 1891767; Simian virus 40 (SV40).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C176894; Fanconi anemia, complementation group N
DI   ORDO; Orphanet_84; Fanconi anemia
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_D7EH ! EUFA1341 LCL
SX   Female
AG   2Y
CA   Transformed cell line
DT   Created: 10-09-24; Last updated: 19-12-24; Version: 2
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RX   PubMed=17200672; DOI=10.1038/ng1942;
RA   Xia B., Dorsman J.C., Ameziane N., de Vries Y., Rooimans M.A.,
RA   Sheng Q., Pals G., Errami A., Gluckman E., Llera J., Wang W.-D.,
RA   Livingston D.M., Joenje H., de Winter J.P.;
RT   "Fanconi anemia is associated with a defect in the BRCA2 partner
RT   PALB2.";
RL   Nat. Genet. 39:159-161(2007).
//
RX   PubMed=28319063; DOI=10.1038/onc.2017.46; PMCID=PMC5519427;
RA   Foo T.K., Tischkowitz M., Simhadri S., Boshari T., Zayed N.,
RA   Burke K.A., Berman S.H., Blecua P., Riaz N., Huo Y.-Y., Ding Y.-C.,
RA   Neuhausen S.L., Weigelt B., Reis-Filho J.S., Foulkes W.D., Xia B.;
RT   "Compromised BRCA1-PALB2 interaction is associated with breast cancer
RT   risk.";
RL   Oncogene 36:4161-4170(2017).
//