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Cellosaurus GM25246 (CVCL_JF29)

[Text version]
Cell line name GM25246
Accession CVCL_JF29
Resource Identification Initiative To cite this cell line use: GM25246 (RRID:CVCL_JF29)
Comments Derived from site: In situ; Arm, skin; UBERON=UBERON_0002427.
Cell type: Fibroblast of skin; CL=CL_0002620.
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_IW09 ! GM25245
Sex of cell Female
Age at sampling 2Y
Category Finite 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; GM25246
Encyclopedic resources Wikidata; Q54853846
Entry history
Entry creation15-May-2017
Last entry update19-Dec-2024
Version number10