ID   GM16825
AC   CVCL_U890
SY   ALX-2
DR   CLO; CLO_0018411
DR   Coriell; GM16825
DR   Wikidata; Q54848761
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:4235; GFAP; Simple; p.Arg239Cys (c.729C>T); ClinVar=VCV000016167; Zygosity=Heterozygous (Coriell=GM16825).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C84545; Alexander disease
DI   ORDO; Orphanet_58; Alexander disease
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   6Y
CA   Finite cell line
DT   Created: 16-04-14; Last updated: 19-12-24; Version: 16
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