Cellosaurus cell line UCSCi001-A (CVCL

Cross-references
Cell line name	UCSCi001-A
Synonyms	SII-1802; SII-1802 cl. R
Accession	CVCL_A8ZZ
Resource Identification Initiative	To cite this cell line use: UCSCi001-A (RRID:CVCL_A8ZZ)
Comments	From: Universita Cattolica del Sacro Cuore, Fondazione Policlinico Universitario A. Gemelli; Rome; Italy. Population: Caucasian; Italian. Omics: Array-based CGH. Derived from site: In situ; Leg, skin, dermis; UBERON=UBERON_0001511+UBERON_0002067. Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations	Mutation; HGNC; 4010; FUS; Simple; p.Arg518Ile (c.1553G>T); Zygosity=Heterozygous (PubMed=34303285).
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	31Y
Category	Induced pluripotent stem cell
Publications	PubMed=34303285; DOI=10.1016/j.scr.2021.102461 Martello F., Lattante S., Doronzio P.N., Conte A., Bisogni G., Orteschi D., Pirozzi F., Sabatelli M., Zollino M., Marangi G. Generation of an induced pluripotent stem cell line (UCSCi001-A) from a patient with early-onset amyotrophic lateral sclerosis carrying a FUS variant. Stem Cell Res. 55:102461-102461(2021)
Cell line databases/resources	hPSCreg; UCSCi001-A
Biological sample resources	BioSamples; SAMEA9197919
Encyclopedic resources	Wikidata; Q108821426
Entry history
Entry creation	23-Sep-2021
Last entry update	29-Jun-2023
Version number	6