Cellosaurus cell line SAPi003-A (CVCL

Cellosaurus SAPi003-A (CVCL_YI88)

Cross-references
Cell line name	SAPi003-A
Synonyms	ALS II (FUSR521C/WT) clone#34; ALS II, FUS-R521C/wt; ALS II-FUS-R521C/wt
Accession	CVCL_YI88
Resource Identification Initiative	To cite this cell line use: SAPi003-A (RRID:CVCL_YI88)
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; 4010; FUS; Simple; p.Arg521Cys (c.1561C>T); ClinVar=VCV000016224; Zygosity=Heterozygous (PubMed=26035390; PubMed=27318155).
Disease	Amyotrophic lateral sclerosis 6, with or without frontotemporal dementia (NCIt: C168750) Amyotrophic lateral sclerosis (ORDO: Orphanet_803)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Male
Age at sampling	39Y
Category	Induced pluripotent stem cell
Publications	PubMed=26035390; DOI=10.1242/dmm.020099; PMCID=PMC4486861 Lenzi J., De Santis R., de Turris V., Morlando M., Laneve P., Calvo A., Caliendo V., Chio A., Rosa A., Bozzoni I. 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 Lenzi J., Pagani F., De Santis R., Limatola C., Bozzoni I., Di Angelantonio S., Rosa A. 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; SAPi003-A
Biological sample resources	BioSamples; SAMEA6358471
Encyclopedic resources	Wikidata; Q98129326
Entry history
Entry creation	19-Dec-2019
Last entry update	29-Jun-2023
Version number	8