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Cellosaurus CSSi011-A (CVCL_ZA85)

[Text version]
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; 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)

Cross-references
Cell line databases/resources hPSCreg; CSSi011-A
Biological sample resources BioSamples; SAMEA7044786
Encyclopedic resources Wikidata; Q98125791
Entry history
Entry creation02-Jul-2020
Last entry update29-Jun-2023
Version number6