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Cellosaurus CSSi017-A (CVCL_D6R3)

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Cell line name CSSi017-A
Synonyms CSSi017-A (12862); 12862; 1150 cl 4
Accession CVCL_D6R3
Resource Identification Initiative To cite this cell line use: CSSi017-A (RRID:CVCL_D6R3)
Comments From: Fondazione Casa Sollievo della Sofferenza IRCCS; San Giovanni Rotondo; Italy.
Population: Caucasian.
Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:28337; C9orf72; Repeat_expansion; c.-45+163GGGGCC[>24] (GGGGCC repeat expansion); ClinVar=VCV000031151; Zygosity=Heterozygous; Note=Has 56 repeats (PubMed=38613988).
Disease Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 (NCIt: C168756)
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 45Y
Category Induced pluripotent stem cell
Publications

PubMed=38613988; DOI=10.1016/j.scr.2024.103412
Giorgia Ruotolo, Angela D'Anzi, Alessia Casamassa, Martina Mazzoni, Daniela Ferrari, Ivan Lombardi, Rose Mary Carletti, Maria Cecilia D'Asdia, Isabella Torrente, Katia Frezza, Serena Lattante ...Show all 15 authors... , Mario Sabatelli, Maria Pennuto, Angelo Luigi Vescovi, Jessica Diana Rosati; Show fewer authors
Generation of induced pluripotent stem cells (CSSi017-A) (12862) from an ALS patient carrying a repeat expansion in the C9orf72 gene.
Stem Cell Res. 77:103412-103412(2024)

Cross-references
Cell line databases/resources hPSCreg; CSSi017-A
Biological sample resources BioSamples; SAMEA114594441
Entry history
Entry creation10-Sep-2024
Last entry update10-Apr-2025
Version number3