ID   GM25248
AC   CVCL_CX84
DR   Coriell; GM25248
DR   Wikidata; Q54853848
RX   PubMed=26070982;
CC   Sequence variation: Mutation; HGNC; HGNC:25928; WDR73; Simple; p.Phe296Leufs*26 (c.888delT); ClinVar=VCV000225244; Zygosity=Heterozygous (PubMed=26070982).
CC   Derived from site: In situ; Arm, skin; UBERON=UBERON_0002427.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_CX83 ! GM25247
SX   Male
AG   28Y
CA   Finite 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).
//