Cellosaurus cell line SAPi002-A (CVCL

Cellosaurus SAPi002-A (CVCL_YI87)

Cross-references
Cell line name	SAPi002-A
Synonyms	ALS I (FUSR514S/WT) clone#1; ALS I; ALS I-FUS-R514S/wt; FUS-R514S/wt
Accession	CVCL_YI87
Resource Identification Initiative	To cite this cell line use: SAPi002-A (RRID:CVCL_YI87)
Comments	From: Sapienza University of Rome; Rome; Italy. Derived from site: In situ; Skin; UBERON=UBERON_0002097. Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations	Mutation; HGNC; HGNC:4010; FUS; Simple; p.Arg514Ser (c.1542G>T); Zygosity=Heterozygous (PubMed=26035390; PubMed=27318155).
Disease	Amyotrophic lateral sclerosis 6, with or without frontotemporal dementia (NCIt: C168750) Frontotemporal dementia with motor neuron disease (ORDO: Orphanet_275872)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Female
Age at sampling	49Y
Category	Induced pluripotent stem cell
Publications	PubMed=26035390; DOI=10.1242/dmm.020099; PMCID=PMC4486861 Jessica Lenzi, Riccardo De Santis, Valeria de Turris, Mariangela Morlando, Pietro Laneve, Andrea Calvo, Virginia Caliendo, Adriano Chio, Alessandro Rosa, Irene Bozzoni; ALS mutant FUS proteins are recruited into stress granules in induced pluripotent stem cell-derived motoneurons. Dis. Model. Mech. 8:755-766(2015) PubMed=27318155; DOI=10.1016/j.scr.2016.06.003; PMCID=PMC5009183 Jessica Lenzi, Francesca Pagani, Riccardo De Santis, Cristina Limatola, Irene Bozzoni, Silvia Di Angelantonio, Alessandro Rosa; Differentiation of control and ALS mutant human iPSCs into functional skeletal muscle cells, a tool for the study of neuromuscolar diseases. Stem Cell Res. 17:140-147(2016)
Cell line databases/resources	hPSCreg; SAPi002-A
Biological sample resources	BioSamples; SAMEA6358469
Encyclopedic resources	Wikidata; Q98129323
Entry history
Entry creation	19-Dec-2019
Last entry update	10-Apr-2025
Version number	9