ID   GM25249
AC   CVCL_CX85
DR   Coriell; GM25249
DR   Wikidata; Q54853849
RX   PubMed=26070982;
CC   Sequence variation: Mutation; HGNC; HGNC:25928; WDR73; Simple; p.Phe296Leufs*26 (c.888delT); ClinVar=VCV000225244; Zygosity=Heterozygous (PubMed=26070982).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   23Y
CA   Transformed cell line
DT   Created: 13-07-16; Last updated: 19-12-24; Version: 10
//
RX   PubMed=26070982; DOI=10.1093/brain/awv153; PMCID=PMC4511861;
RA   Jinks R.N., Puffenberger E.G., Baple E.L., Harding B., Crino P.,
RA   Fogo A.B., Wenger O., Xin B.-Z., Koehler A.E., McGlincy M.H.,
RA   Provencher M.M., Smith J.D., Tran L., Al Turki S., Chioza B.A.,
RA   Cross H.E., Harlalka G.V., Hurles M.E., Maroofian R., Heaps A.D.,
RA   Morton M.C., Stempak L., Hildebrandt F., Sadowski C.E., Zaritsky J.,
RA   Campellone K.G., Morton D.H., Wang H., Crosby A., Strauss K.A.;
RT   "Recessive nephrocerebellar syndrome on the Galloway-Mowat syndrome
RT   spectrum is caused by homozygous protein-truncating mutations of
RT   WDR73.";
RL   Brain 138:2173-2190(2015).
//