Cellosaurus cell line ALS-050 (CVCL

Cellosaurus ALS-050 (CVCL_RL11)

Cross-references
Cell line name	ALS-050
Synonyms	ALS-50; ALS50; HEL13.1; UHi002-A
Accession	CVCL_RL11
Resource Identification Initiative	To cite this cell line use: ALS-050 (RRID:CVCL_RL11)
Comments	Omics: Transcriptomics; Microarray. Derived from site: In situ; Skin; UBERON=UBERON_0002097. Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations	Mutation; HGNC; HGNC:28337; C9orf72; Repeat_expansion; c.-45+163GGGGCC[>24] (GGGGCC repeat expansion); ClinVar=VCV000031151; Zygosity=Unspecified (PubMed=24139042).
Disease	Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 (NCIt: C168756) Frontotemporal dementia with motor neuron disease (ORDO: Orphanet_275872)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Male
Age at sampling	Age unspecified
Category	Induced pluripotent stem cell
Publications	PubMed=24139042; DOI=10.1016/j.neuron.2013.10.015; PMCID=PMC4098943 Christopher J. Donnelly, Ping-Wu Zhang, Jacqueline T. Pham, Aaron R. Haeusler, Nipun A. Mistry, Svetlana Vidensky, Elizabeth L. Daley, Erin M. Poth, Benjamin Hoover, Daniel M. Fines, Nicholas John Maragakis ...Show all 20 authors... , Pentti J. Tienari, Leonard Petrucelli, Bryan J. Traynor, Jiou Wang, Frank Rigo, C. Frank Bennett, Seth Blackshaw, Rita Sattler, Jeffrey D. Rothstein; Show fewer authors RNA toxicity from the ALS/FTD C9ORF72 expansion is mitigated by antisense intervention. Neuron 80:415-428(2013)
Cell line databases/resources	hPSCreg; UHi002-A SKIP; SKIP001312
Biological sample resources	BioSamples; SAMEA5236073
Encyclopedic resources	Wikidata; Q54749292
Entry history
Entry creation	05-Mar-2018
Last entry update	10-Apr-2025
Version number	12