Cellosaurus cell line Alex2 (CVCL

Cross-references
Cell line name	Alex2
Accession	CVCL_C6VZ
Resource Identification Initiative	To cite this cell line use: Alex2 (RRID:CVCL_C6VZ)
Comments	Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations	Mutation; HGNC; HGNC:4235; GFAP; Simple; p.Glu69Lys (c.205G>A); ClinVar=VCV000190333; Zygosity=Heterozygous (PubMed=27402089).
Disease	Alexander disease (NCIt: C84545) Alexander disease (ORDO: Orphanet_58)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Female
Age at sampling	10Y
Category	Induced pluripotent stem cell
Publications	PubMed=27402089; DOI=10.1186/s40478-016-0337-0; PMCID=PMC4940830 Kondo T., Funayama M., Miyake M., Tsukita K., Era T., Osaka H., Ayaki T., Takahashi R., Inoue H. Modeling Alexander disease with patient iPSCs reveals cellular and molecular pathology of astrocytes. Acta Neuropathol. Commun. 4:69.1-69.12(2016)
Cell line databases/resources	SKIP; SKIP000910
Encyclopedic resources	Wikidata; Q123030674
Entry history
Entry creation	21-Mar-2023
Last entry update	19-Dec-2024
Version number	4