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) Amyotrophic lateral sclerosis (ORDO: Orphanet_803)
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 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; SAPi004-A
Biological sample resources	BioSamples; SAMEA6358473
Encyclopedic resources	Wikidata; Q98129329
Entry history
Entry creation	19-Dec-2019
Last entry update	19-Dec-2024
Version number	9