ID   GM25247
AC   CVCL_CX83
DR   Coriell; GM25247
DR   Wikidata; Q54853847
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)
OI   CVCL_CX84 ! GM25248
SX   Male
AG   28Y
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).
//