Cellosaurus cell line CSSi011-A (CVCL

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 D'Anzi A., Altieri F., Perciballi E., Ferrari D., Bernardini L., Goldoni M., Mazzini L., De Marchi F., Di Pierro A., D'Alfonso S., Gelati M., Vescovi A.L., Rosati J.D. 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