ID   IFAR-849
AC   CVCL_A2WU
DR   Wikidata; Q105509637
RX   PubMed=17200671;
CC   Sequence variation: Mutation; HGNC; HGNC:26144; PALB2; Simple; p.Asn1039Ilefs*2 (c.3116delA); ClinVar=VCV000126715; Zygosity=Heterozygous (PubMed=17200671).
CC   Sequence variation: Mutation; HGNC; HGNC:26144; PALB2; Simple; p.Tyr1183Ter (c.3549C>G); ClinVar=VCV000001245; Zygosity=Heterozygous (PubMed=17200671).
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)
CA   Transformed cell line
DT   Created: 12-01-21; Last updated: 19-12-24; Version: 5
//
RX   PubMed=17200671; DOI=10.1038/ng1947;
RA   Reid S., Schindler D., Hanenberg H., Barker K., Hanks S., Kalb R.,
RA   Neveling K., Kelly P., Seal S., Freund M., Wurm M., Batish S.D.,
RA   Lach F.P., Yetgin S., Neitzel H., Ariffin H., Tischkowitz M.,
RA   Mathew C.G., Auerbach A.D., Rahman N.;
RT   "Biallelic mutations in PALB2 cause Fanconi anemia subtype FA-N and
RT   predispose to childhood cancer.";
RL   Nat. Genet. 39:162-164(2007).
//