ID   GM20074
AC   CVCL_1M99
DR   CLO; CLO_0028311
DR   Coriell; GM20074
DR   Wikidata; Q54850793
CC   Sequence variation: Mutation; HGNC; HGNC:3258; EIF2B2; Simple; p.Glu213Gly (c.638A>G); ClinVar=VCV000004336; Zygosity=Heterozygous (Coriell=GM20074).
CC   Sequence variation: Mutation; HGNC; HGNC:3258; EIF2B2; Simple; p.Glu304Ter (c.910G>T); ClinVar=VCV000977721; Zygosity=Heterozygous (Coriell=GM20074).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C122664; Leukoencephalopathy with vanishing white matter
DI   ORDO; Orphanet_99854; Cree leukoencephalopathy
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   21Y
CA   Transformed cell line
DT   Created: 08-07-15; Last updated: 19-12-24; Version: 14
//