Cellosaurus cell line Alex3 (CVCL

Cross-references
Cell line name	Alex3
Accession	CVCL_C6W0
Resource Identification Initiative	To cite this cell line use: Alex3 (RRID:CVCL_C6W0)
Comments	Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067. Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations	Mutation; HGNC; HGNC:4235; GFAP; Simple; p.Arg276Leu (c.827G>T); ClinVar=VCV000016177; 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	43Y
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; SKIP000911
Encyclopedic resources	Wikidata; Q123030675
Entry history
Entry creation	21-Mar-2023
Last entry update	19-Dec-2024
Version number	4