ID   HPS2790
AC   CVCL_D0UK
DR   RCB; HPS2790
DR   Wikidata; Q123032399
CC   Sequence variation: Mutation; HGNC; 4235; GFAP; Unexplicit; Not described; Zygosity=Unspecified (RCB=HPS2790).
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)
OI   CVCL_D0UG ! HPS2786
OI   CVCL_D0UH ! HPS2787
OI   CVCL_D0UI ! HPS2788
OI   CVCL_D0UJ ! HPS2789
OI   CVCL_D0UL ! HPS2791
SX   Female
AG   60-69Y
CA   Induced pluripotent stem cell
DT   Created: 05-10-23; Last updated: 30-01-24; Version: 2
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