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Cellosaurus GM25245 (CVCL_IW09)

[Text version]
Cell line name GM25245
Accession CVCL_IW09
Resource Identification Initiative To cite this cell line use: GM25245 (RRID:CVCL_IW09)
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=Homozygous (PubMed=26070982).
  • Mutation; HGNC; HGNC:30493; WHAMM; Simple; p.Ile422Lysfs*35 (c.1264_1270delATAAAAG); Zygosity=Heterozygous (PubMed=26070982).
Disease Galloway-Mowat syndrome (NCIt: C132195)
Galloway-Mowat syndrome (ORDO: Orphanet_2065)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual CVCL_JF29 ! GM25246
Sex of cell Female
Age at sampling 2Y
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)

Cross-references
Cell line collections (Providers) Coriell; GM25245
Encyclopedic resources Wikidata; Q54853845
Entry history
Entry creation03-Mar-2017
Last entry update19-Dec-2024
Version number10