ID   GM22206
AC   CVCL_AA08
DR   Coriell; GM22206
DR   Wikidata; Q54852426
CC   Sequence variation: Mutation; HGNC; HGNC:7773; NF2; Simple; p.Lys159Serfs*15 (c.476delA); ClinVar=VCV001803112; Zygosity=Heterozygous (Coriell=GM22206).
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   Female
AG   11Y
CA   Transformed cell line
DT   Created: 23-02-16; Last updated: 19-12-24; Version: 10
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