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Cellosaurus GM12318 (CVCL_5M58)

[Text version]
Cell line name GM12318
Accession CVCL_5M58
Resource Identification Initiative To cite this cell line use: GM12318 (RRID:CVCL_5M58)
Comments Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; 7678; NDP; Simple; p.Leu61Phe (c.181C>T); ClinVar=VCV000010690; Zygosity=Hemizygous (PubMed=9143918).
Disease Norrie syndrome (NCIt: C118634)
Norrie disease (ORDO: Orphanet_649)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 44Y
Category Transformed cell line
Publications

PubMed=9143918; DOI=10.1002/(SICI)1098-1004(1997)9:5<402::AID-HUMU4>3.0.CO;2-5
Rehm H.L., Gutierrez-Espeleta G.A., Garcia R., Jimenez G., Khetarpal U., Priest J.M., Sims K.B., Keats B.J.B., Morton C.C.
Norrie disease gene mutation in a large Costa Rican kindred with a novel phenotype including venous insufficiency.
Hum. Mutat. 9:402-408(1997)

Cross-references
Cell line collections (Providers) Coriell; GM12318
Cell line databases/resources CLO; CLO_0019380
Encyclopedic resources Wikidata; Q54845675
Entry history
Entry creation14-Dec-2015
Last entry update29-Jun-2023
Version number11