Cellosaurus cell line UCSCi002-A (CVCL

Cellosaurus UCSCi002-A (CVCL_C0JS)

Cross-references
Cell line name	UCSCi002-A
Synonyms	LIF-1989
Accession	CVCL_C0JS
Resource Identification Initiative	To cite this cell line use: UCSCi002-A (RRID:CVCL_C0JS)
Comments	From: Universita Cattolica del Sacro Cuore, Fondazione Policlinico Universitario A. Gemelli; Rome; Italy. Population: Caucasian; Italian. Omics: Variations; Array-based CGH. Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067. Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations	Mutation; HGNC; HGNC:11571; TARDBP; Simple; p.Ser332Asn (c.995G>A); ClinVar=VCV001448395; Zygosity=Heterozygous (PubMed=35667216).
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	Female
Age at sampling	65Y
Category	Induced pluripotent stem cell
Publications	PubMed=35667216; DOI=10.1016/j.scr.2022.102825 Francesco Martello, Serena Lattante, Paolo Niccolo Doronzio, Amelia Conte, Giulia Bisogni, Daniela Orteschi, Marco Luigetti, Maria Alessandra Marrucci, Marcella Zollino, Mario Sabatelli, Giuseppe Marangi; Generation of an induced pluripotent stem cell line (UCSCi002-A) from a patient with a variant in TARDBP gene associated with familial amyotrophic lateral sclerosis and frontotemporal dementia. Stem Cell Res. 62:102825-102825(2022)
Cell line databases/resources	hPSCreg; UCSCi002-A
Biological sample resources	BioSamples; SAMEA10774218
Encyclopedic resources	Wikidata; Q112930507
Entry history
Entry creation	23-Jun-2022
Last entry update	10-Apr-2025
Version number	7