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Cellosaurus CSSi013-A (CVCL_B7SG)

[Text version]
Cell line name CSSi013-A
Synonyms CSSi013-A (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; 11571; TARDBP; Simple; p.Gly376Asp (c.1127G>A); Zygosity=Heterozygous (PubMed=35714448).
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 34Y
Category Induced pluripotent stem cell

PubMed=35714448; DOI=10.1016/j.scr.2022.102835
D'Anzi A., Perciballi E., Ruotolo G., Ferrari D., Notaro A., Lombardi I., Gelati M., Frezza K., Bernardini L., Torrente I., De Luca A., La Bella V., Vescovi A.L., Rosati J.
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 creation23-Jun-2022
Last entry update29-Jun-2023
Version number5