ID   GM19988
AC   CVCL_F104
DR   CLO; CLO_0028370
DR   Coriell; GM19988
DR   Wikidata; Q54850768
CC   Sequence variation: Mutation; HGNC; HGNC:3258; EIF2B2; Simple; p.Ser171Phe (c.512C>T); ClinVar=VCV000004339; Zygosity=Heterozygous (Coriell=GM19988).
CC   Sequence variation: Mutation; HGNC; HGNC:3258; EIF2B2; Simple; p.Met203Trpfs*2 (c.607_612delATGGCTinsTG); ClinVar=VCV000004340; Zygosity=Heterozygous (Coriell=GM19988).
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   36Y
CA   Transformed cell line
DT   Created: 22-10-12; Last updated: 19-12-24; Version: 16
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