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 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; SKIP000909
Encyclopedic resources	Wikidata; Q123030673
Entry history
Entry creation	21-Mar-2023
Last entry update	19-Dec-2024
Version number	4