Cellosaurus cell line ALS-002 (CVCL

Cross-references
Cell line name	ALS-002
Accession	CVCL_RL05
Resource Identification Initiative	To cite this cell line use: ALS-002 (RRID:CVCL_RL05)
Comments	Derived from site: In situ; Skin; UBERON=UBERON_0002097. Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations	Mutation; HGNC; HGNC:11179; SOD1; Simple; p.Ala5Val (c.14C>T) (A4V); ClinVar=VCV000014763; Zygosity=Unspecified (PubMed=24139042).
Disease	Amyotrophic lateral sclerosis 1 (NCIt: C168749) Amyotrophic lateral sclerosis (ORDO: Orphanet_803)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Sex unspecified
Age at sampling	Age unspecified
Category	Induced pluripotent stem cell
Publications	PubMed=24139042; DOI=10.1016/j.neuron.2013.10.015; PMCID=PMC4098943 Donnelly C.J., Zhang P.-W., Pham J.T., Haeusler A.R., Mistry N.A., Vidensky S., Daley E.L., Poth E.M., Hoover B., Fines D.M., Maragakis N.J., Tienari P.J., Petrucelli L., Traynor B.J., Wang J., Rigo F., Bennett C.F., Blackshaw S., Sattler R., Rothstein J.D. RNA toxicity from the ALS/FTD C9ORF72 expansion is mitigated by antisense intervention. Neuron 80:415-428(2013)
Cell line databases/resources	SKIP; SKIP001317
Encyclopedic resources	Wikidata; Q54749279
Entry history
Entry creation	05-Mar-2018
Last entry update	19-Dec-2024
Version number	10