Cellosaurus cell line CIBIOi001-A (CVCL

Cross-references
Cell line name	CIBIOi001-A
Synonyms	Q66K#44DRM
Accession	CVCL_UF38
Resource Identification Initiative	To cite this cell line use: CIBIOi001-A (RRID:CVCL_UF38)
Comments	From: CIBIO, University of Trento; Trento; Italy. Population: Caucasian; Italian. Cell type: Fibroblast; CL=CL_0000057.
Sequence variations	Mutation; HGNC; HGNC:6912; MATR3; Simple; p.Gln66Lys (c.196C>A); ClinVar=VCV002734791; Zygosity=Heterozygous (PubMed=30366341).
Disease	Amyotrophic lateral sclerosis 21 (NCIt: C168755) Amyotrophic lateral sclerosis (ORDO: Orphanet_803)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Male
Age at sampling	55Y
Category	Induced pluripotent stem cell
Publications	PubMed=30366341; DOI=10.1016/j.scr.2018.10.011 Daniele Pollini, Rosa Loffredo, Marina Cardano, Luciano Conti, Serena Lattante, Angelantonio Notarangelo, Mario Sabatelli, Alessandro Provenzani; Generation and characterization of a human iPSC line from an ALS patient carrying the Q66K-MATR3 mutation. Stem Cell Res. 33:146-150(2018)
Cell line databases/resources	hPSCreg; CIBIOi001-A
Encyclopedic resources	Wikidata; Q93453497
Entry history
Entry creation	13-Nov-2018
Last entry update	27-Nov-2025
Version number	10