ID   GM12318
AC   CVCL_5M58
DR   CLO; CLO_0019380
DR   Coriell; GM12318
DR   Wikidata; Q54845675
RX   PubMed=9143918;
CC   Sequence variation: Mutation; HGNC; 7678; NDP; Simple; p.Leu61Phe (c.181C>T); ClinVar=VCV000010690; Zygosity=Hemizygous (PubMed=9143918).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C118634; Norrie syndrome
DI   ORDO; Orphanet_649; Norrie disease
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   44Y
CA   Transformed cell line
DT   Created: 14-12-15; Last updated: 29-06-23; Version: 11
//
RX   PubMed=9143918; DOI=10.1002/(SICI)1098-1004(1997)9:5<402::AID-HUMU4>3.0.CO;2-5;
RA   Rehm H.L., Gutierrez-Espeleta G.A., Garcia R., Jimenez G.,
RA   Khetarpal U., Priest J.M., Sims K.B., Keats B.J.B., Morton C.C.;
RT   "Norrie disease gene mutation in a large Costa Rican kindred with a
RT   novel phenotype including venous insufficiency.";
RL   Hum. Mutat. 9:402-408(1997).
//