ID   GM19800
AC   CVCL_AA05
DR   CLO; CLO_0028280
DR   Coriell; GM19800
DR   Wikidata; Q54850720
CC   Sequence variation: Mutation; HGNC; HGNC:7773; NF2; Simple; p.Met514Val (c.1540A>G) (1539A>G); ClinVar=VCV000201125; Zygosity=Unspecified (Coriell=GM19800).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C3274; Neurofibromatosis type 2
DI   ORDO; Orphanet_637; Neurofibromatosis type 2
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   Age unspecified
CA   Transformed cell line
DT   Created: 23-02-16; Last updated: 19-12-24; Version: 11
//