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 Takayuki Kondo, Misato Funayama, Michiyo Miyake, Kayoko Tsukita, Takumi Era, Hitoshi Osaka, Takashi Ayaki, Ryosuke Takahashi, Haruhisa Inoue; 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