Cellosaurus cell line Alex1 (CVCL

Cross-references
Cell line name	Alex1
Accession	CVCL_C6VY
Resource Identification Initiative	To cite this cell line use: Alex1 (RRID:CVCL_C6VY)
Comments	Population: Caucasian. Derived from site: In situ; Skin; UBERON=UBERON_0002097. Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations	Mutation; HGNC; HGNC:4235; GFAP; Simple; p.Arg239Cys (c.729C>T); ClinVar=VCV000016167; Zygosity=Heterozygous (PubMed=27402089).
Disease	Alexander disease (NCIt: C84545) Alexander disease (ORDO: Orphanet_58)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy	Parent: CVCL_U890 (GM16825)
Sex of cell	Male
Age at sampling	6Y
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; SKIP000909
Encyclopedic resources	Wikidata; Q123030673
Entry history
Entry creation	21-Mar-2023
Last entry update	19-Dec-2024
Version number	4