ID   GM16824
AC   CVCL_U889
SY   ALX-1
DR   CLO; CLO_0018420
DR   Coriell; GM16824
DR   Wikidata; Q54848759
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:4235; GFAP; Simple; p.Arg239Cys (c.729C>T); ClinVar=VCV000016167; Zygosity=Heterozygous (Coriell=GM16824).
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   1Y11M
CA   Transformed cell line
DT   Created: 16-04-14; Last updated: 19-12-24; Version: 17
//