ID   EUFA1341 LCL
AC   CVCL_D7EH
RX   PubMed=17200672;
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   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C176894; Fanconi anemia, complementation group N
DI   ORDO; Orphanet_84; Fanconi anemia
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_D7EG ! EUFA1341
SX   Female
AG   2Y
CA   Transformed cell line
DT   Created: 10-09-24; Last updated: 19-12-24; Version: 2
//
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).
//