Induced pluripotent stem cell production (CSSi019-A)(14432) from an asymptomatic subject carrying a expansion of C9orf72 gene
One of the genetic mutations most associated with the onset of amyotrophic lateral sclerosis, both in sporadic and familial cases, is the expansion of the C9orf72 gene. The presence of more than 30 repeats (GGGGCC) correlates with uncertain ALS symptomatology. Here we collected a dermal biopsy from a subject carrying 36 hexanucleotide repeats and reprogrammed it into an induced pluripotent stem cell line. Despite the number of repeat elements, the subject had no symptoms at the age of the biopsy (76 years), thus resulting in a healthy carrier of the mutation.
Authors
- Jessica Rosati (ORCID: https://orcid.org/0000-0002-4483-386X)
- Angela D’Anzi (ORCID: https://orcid.org/0000-0001-5133-7234)
- Angela Maria Giada Giovenale (ORCID: https://orcid.org/0000-0003-0291-3359)
- Franca Codazzi (ORCID: https://orcid.org/0000-0002-6740-8612)
- Massimo Marano (ORCID: https://orcid.org/0000-0001-9885-3666)
- Serena Lattante (ORCID: https://orcid.org/0000-0003-2891-0340)
- Mario Sabatelli (ORCID: https://orcid.org/0000-0001-6635-4985)
- Maria Pennuto (ORCID: https://orcid.org/0000-0001-8634-0767)
- Vincenzo Di Lazzaro (ORCID: https://orcid.org/0000-0002-9113-5925)
- Daniela Ferrari (ORCID: https://orcid.org/0000-0001-7251-9854)
- Gianluca Ruotolo
- G. Giacomo Consalez (ORCID: https://orcid.org/0000-0003-4594-6273)
- Cinzia Giacometti (ORCID: https://orcid.org/0000-0002-5313-0971)
- Ettore Vulcano (ORCID: https://orcid.org/0000-0002-0780-2159)
- Angelo L. Vescovi (ORCID: https://orcid.org/0000-0002-1742-4112)
- Cecilia D'Asdia
Institutions
- Università Cattolica del Sacro Cuore (IT)
- Vita-Salute San Raffaele University (IT)
- Università Campus Bio-Medico (IT)
- Casa Sollievo della Sofferenza (IT)
- Agostino Gemelli University Polyclinic (IT)
- Veneto Institute of Molecular Medicine (IT)
- Centro Clinico Nemo (IT)
- University of Milano-Bicocca (IT)
Publication Details
- Journal
- Stem Cell Research
- Published
- 2024-08-23
- DOI
- https://doi.org/10.1016/j.scr.2024.103540
- Primary Topic
- Amyotrophic Lateral Sclerosis Research
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- Ministero della Salute