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: 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) Amyotrophic lateral sclerosis (ORDO: Orphanet_803)
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 Martello F., Lattante S., Doronzio P.N., Conte A., Bisogni G., Orteschi D., Luigetti M., Marrucci M.A., Zollino M., Sabatelli M., Marangi G. 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	19-Dec-2024
Version number	6