Cellosaurus cell line CSSi013-A (CVCL

Cellosaurus CSSi013-A (CVCL_B7SG)

Cross-references
Cell line name	CSSi013-A
Synonyms	CSSi013-A (9360); 9360; CSSi013-A cl.D
Accession	CVCL_B7SG
Resource Identification Initiative	To cite this cell line use: CSSi013-A (RRID:CVCL_B7SG)
Comments	From: Fondazione Casa Sollievo della Sofferenza IRCCS; San Giovanni Rotondo; Italy. Population: Caucasian; Italian. Donor information: At sampling donor was not affected with amyotrophic lateral sclerosis. 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.Gly376Asp (c.1127G>A); Zygosity=Heterozygous (PubMed=35714448).
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	34Y
Category	Induced pluripotent stem cell
Publications	PubMed=35714448; DOI=10.1016/j.scr.2022.102835 Angela D'Anzi, Elisa Perciballi, Giorgia Ruotolo, Daniela Ferrari, Antonietta Notaro, Ivan Lombardi, Maurizio Gelati, Katia Frezza, Laura Bernardini, Isabella Torrente, Alessandro De Luca ...Show all 14 authors... , Vincenzo La Bella, Angelo Luigi Vescovi, Jessica Diana Rosati; Show fewer authors Production of CSSi013-A (9360) iPSC line from an asymptomatic subject carrying an heterozygous mutation in TDP-43 protein. Stem Cell Res. 63:102835-102835(2022)
Cell line databases/resources	hPSCreg; CSSi013-A
Biological sample resources	BioSamples; SAMEA14080160
Encyclopedic resources	Wikidata; Q112929419
Entry history
Entry creation	23-Jun-2022
Last entry update	10-Apr-2025
Version number	8