ID   HPS2794
AC   CVCL_D0UP
DR   RCB; HPS2794
DR   Wikidata; Q123032403
CC   Sequence variation: Mutation; HGNC; HGNC:4235; GFAP; Unexplicit; Not described; Zygosity=Unspecified (RCB=HPS2794).
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_D0UM ! HPS2792
OI   CVCL_D0UN ! HPS2793
OI   CVCL_D0UQ ! HPS2795
OI   CVCL_D0UR ! HPS2796
OI   CVCL_D0US ! HPS2797
SX   Female
AG   30-39Y
CA   Induced pluripotent stem cell
DT   Created: 05-10-23; Last updated: 19-12-24; Version: 3
//