ID   Alex2
AC   CVCL_C6VZ
DR   SKIP; SKIP000910
DR   Wikidata; Q123030674
RX   PubMed=27402089;
CC   Sequence variation: Mutation; HGNC; HGNC:4235; GFAP; Simple; p.Glu69Lys (c.205G>A); ClinVar=VCV000190333; Zygosity=Heterozygous (PubMed=27402089).
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   Female
AG   10Y
CA   Induced pluripotent stem cell
DT   Created: 21-03-23; Last updated: 19-12-24; Version: 4
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RX   PubMed=27402089; DOI=10.1186/s40478-016-0337-0; PMCID=PMC4940830;
RA   Kondo T., Funayama M., Miyake M., Tsukita K., Era T., Osaka H.,
RA   Ayaki T., Takahashi R., Inoue H.;
RT   "Modeling Alexander disease with patient iPSCs reveals cellular and
RT   molecular pathology of astrocytes.";
RL   Acta Neuropathol. Commun. 4:69.1-69.12(2016).
//