ID   GM16826
AC   CVCL_U891
SY   ALX-3
DR   CLO; CLO_0018412
DR   Coriell; GM16826
DR   Wikidata; Q54848762
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:4235; GFAP; Simple; p.Arg79Cys (c.235C>T); ClinVar=VCV000016171; Zygosity=Heterozygous (Coriell=GM16826).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C84545; Alexander disease
DI   ORDO; Orphanet_58; Alexander disease
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   4Y
CA   Transformed cell line
DT   Created: 16-04-14; Last updated: 19-12-24; Version: 17
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