Cellosaurus cell line CSSi011-A (CVCL

Cellosaurus CSSi011-A (CVCL_ZA85)

Cross-references
Cell line name	CSSi011-A
Accession	CVCL_ZA85
Resource Identification Initiative	To cite this cell line use: CSSi011-A (RRID:CVCL_ZA85)
Comments	From: Fondazione Casa Sollievo della Sofferenza IRCCS; San Giovanni Rotondo; Italy. Population: Caucasian; Albanian. Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067. Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations	Mutation; HGNC; HGNC:11179; SOD1; Simple; p.Leu145Phe (c.435G>C) (L144F); ClinVar=VCV000586637; Zygosity=Unspecified (PubMed=32739880).
Disease	Amyotrophic lateral sclerosis (NCIt: C34373) Amyotrophic lateral sclerosis (ORDO: Orphanet_803)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Female
Age at sampling	48Y
Category	Induced pluripotent stem cell
Publications	PubMed=32739880; DOI=10.1016/j.scr.2020.101924 Angela D'Anzi, Filomena Altieri, Elisa Perciballi, Daniela Ferrari, Laura Bernardini, Marina Goldoni, Letizia Mazzini, Fabiola De Marchi, Alice Di Pierro, Sandra D'Alfonso, Maurizio Gelati ...Show all 13 authors... , Angelo Luigi Vescovi, Jessica Diana Rosati; Show fewer authors Generation of an induced pluripotent stem cell line, CSSi011-A (6534), from an amyotrophic lateral sclerosis patient with heterozygous L145F mutation in SOD1 gene. Stem Cell Res. 47:101924-101924(2020)
Cell line databases/resources	hPSCreg; CSSi011-A
Biological sample resources	BioSamples; SAMEA7044786
Encyclopedic resources	Wikidata; Q98125791
Entry history
Entry creation	02-Jul-2020
Last entry update	19-Dec-2024
Version number	7