ID   GM20073
AC   CVCL_1M98
DR   CLO; CLO_0028360
DR   Coriell; GM20073
DR   Wikidata; Q54850792
CC   Sequence variation: Mutation; HGNC; HGNC:3258; EIF2B2; Simple; p.Glu213Gly (c.638A>G); ClinVar=VCV000004336; Zygosity=Heterozygous (Coriell=GM20073).
CC   Sequence variation: Mutation; HGNC; HGNC:3258; EIF2B2; Simple; p.Glu304Ter (c.910G>T); ClinVar=VCV000977721; Zygosity=Heterozygous (Coriell=GM20073).
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   Female
AG   24Y
CA   Transformed cell line
DT   Created: 08-07-15; Last updated: 19-12-24; Version: 14
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