Cellosaurus cell line GM25249 (CVCL

Cross-references
Cell line name	GM25249
Accession	CVCL_CX85
Resource Identification Initiative	To cite this cell line use: GM25249 (RRID:CVCL_CX85)
Comments	Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV). Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations	Mutation; HGNC; HGNC:25928; WDR73; Simple; p.Phe296Leufs*26 (c.888delT); ClinVar=VCV000225244; Zygosity=Heterozygous (PubMed=26070982).
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Female
Age at sampling	23Y
Category	Transformed cell line
Publications	PubMed=26070982; DOI=10.1093/brain/awv153; PMCID=PMC4511861 Jinks R.N., Puffenberger E.G., Baple E.L., Harding B., Crino P., Fogo A.B., Wenger O., Xin B.-Z., Koehler A.E., McGlincy M.H., Provencher M.M., Smith J.D., Tran L., Al Turki S., Chioza B.A., Cross H.E., Harlalka G.V., Hurles M.E., Maroofian R., Heaps A.D., Morton M.C., Stempak L., Hildebrandt F., Sadowski C.E., Zaritsky J., Campellone K.G., Morton D.H., Wang H., Crosby A., Strauss K.A. Recessive nephrocerebellar syndrome on the Galloway-Mowat syndrome spectrum is caused by homozygous protein-truncating mutations of WDR73. Brain 138:2173-2190(2015)
Cell line collections (Providers)	Coriell; GM25249
Encyclopedic resources	Wikidata; Q54853849
Entry history
Entry creation	13-Jul-2016
Last entry update	19-Dec-2024
Version number	10