Cellosaurus cell line GM12318 (CVCL

Cross-references
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; 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)
Cell line collections (Providers)	Coriell; GM12318
Cell line databases/resources	CLO; CLO_0019380
Encyclopedic resources	Wikidata; Q54845675
Entry history
Entry creation	14-Dec-2015
Last entry update	19-Dec-2024
Version number	12