Cellosaurus cell line SAPi004-A (CVCL

Cellosaurus SAPi004-A (CVCL_YI89)

Cross-references
Cell line name	SAPi004-A
Synonyms	ALS III (TDP-43A382T/A382T) clone#2; ALS III; TDP43-A382T/A382T; ALS III-TDP43-A382T/A382T
Accession	CVCL_YI89
Resource Identification Initiative	To cite this cell line use: SAPi004-A (RRID:CVCL_YI89)
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:11571; TARDBP; Simple; p.Ala382Thr (c.1144G>A); ClinVar=VCV000021474; Zygosity=Homozygous (PubMed=26035390; PubMed=27318155).
Disease	Amyotrophic lateral sclerosis 10, with or without frontotemporal dementia (NCIt: C168752) 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	50Y
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; SAPi004-A
Biological sample resources	BioSamples; SAMEA6358473
Encyclopedic resources	Wikidata; Q98129329
Entry history
Entry creation	19-Dec-2019
Last entry update	10-Apr-2025
Version number	10