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Cellosaurus CSSi017-A (CVCL_D6R3)

[Text version]
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)
Amyotrophic lateral sclerosis (ORDO: Orphanet_803)
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
Ruotolo G., D'Anzi A., Casamassa A., Mazzoni M., Ferrari D., Lombardi I., Carletti R.M., D'Asdia M.C., Torrente I., Frezza K., Lattante S., Sabatelli M., Pennuto M., Vescovi A.L., Rosati J.D.
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 update19-Dec-2024
Version number2