ID   HPS1445
AC   CVCL_A3MJ
DR   RCB; HPS1445
DR   Wikidata; Q105508026
CC   Sequence variation: Mutation; HGNC; 4235; GFAP; Unexplicit; Not described; Zygosity=Unspecified (RCB=HPS1445).
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_A3MG ! HPS1442
OI   CVCL_A3MH ! HPS1443
OI   CVCL_A3MI ! HPS1444
OI   CVCL_A3MK ! HPS1446
OI   CVCL_A3ML ! HPS1447
SX   Male
AG   40-49Y
CA   Induced pluripotent stem cell
DT   Created: 12-01-21; Last updated: 05-10-23; Version: 5
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