ID   GM25246
AC   CVCL_JF29
DR   Coriell; GM25246
DR   Wikidata; Q54853846
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   Derived from site: In situ; Arm, skin; UBERON=UBERON_0002427.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C132195; Galloway-Mowat syndrome
DI   ORDO; Orphanet_2065; Galloway-Mowat syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_IW09 ! GM25245
SX   Female
AG   2Y
CA   Finite cell line
DT   Created: 15-05-17; 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).
//