ID   GM25245
AC   CVCL_IW09
DR   Coriell; GM25245
DR   Wikidata; Q54853845
RX   PubMed=26070982;
CC   Sequence variation: Mutation; HGNC; HGNC:25928; WDR73; Simple; p.Phe296Leufs*26 (c.888delT); ClinVar=VCV000225244; Zygosity=Homozygous (PubMed=26070982).
CC   Sequence variation: Mutation; HGNC; HGNC:30493; WHAMM; Simple; p.Ile422Lysfs*35 (c.1264_1270delATAAAAG); Zygosity=Heterozygous (PubMed=26070982).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C132195; Galloway-Mowat syndrome
DI   ORDO; Orphanet_2065; Galloway-Mowat syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_JF29 ! GM25246
SX   Female
AG   2Y
CA   Transformed cell line
DT   Created: 03-03-17; 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).
//