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Cellosaurus UNIFEi001-A (CVCL_E6MA)

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Cell line name UNIFEi001-A
Synonyms iPSca1N1; MARPiPSCA1N1; UniFei001-A
Accession CVCL_E6MA
Resource Identification Initiative To cite this cell line use: UNIFEi001-A (RRID:CVCL_E6MA)
Comments From: University of Ferrara; Ferrara; Italy.
Population: Caucasian.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:10548; ATXN1; Repeat_expansion; CAG[60]; Zygosity=Heterozygous (PubMed=39892158).
Disease Spinocerebellar ataxia type 1 (NCIt: C129982)
Spinocerebellar ataxia type 1 (ORDO: Orphanet_98755)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 37Y
Category Induced pluripotent stem cell
Publications

PubMed=39892158; DOI=10.1016/j.scr.2024.103637
Mariangela Pappada, Sara Melija, Martina Facchini, Mara Martino, Sofia Minarini, Anna Caproni, Chiara Nordi, Paola Rimessi, Rita Selvatici, Peggy Carla Raffaella Marconi;
Generation of a human induced pluripotent stem cell line (UNIFEi001-A) from a patient with spinocerebellar ataxia type 1 (SCA1).
Stem Cell Res. 83:103637-103637(2025)

Cross-references
Cell line databases/resources hPSCreg; UNIFEi001-A
Biological sample resources BioSamples; SAMEA116085258
Entry history
Entry creation10-Apr-2025
Last entry update10-Apr-2025
Version number1