Induced pluripotent stem cell production (CSSi019-A)(14432) from an asymptomatic subject carrying a expansion of C9orf72 gene

• Published in: Stem cell research Vol. 81; p. 103540
• Main Authors: Ruotolo, G., D’Anzi, A., Giovenale, A.M.G., Giacometti, C., Ferrari, D., Vulcano, E., D’Asdia, C., Lattante, S., Sabatelli, M., Codazzi, F., Consalez, G., Marano, M., Di Lazzaro, V., Pennuto, M., Vescovi, A., Rosati, J.
• Format: Journal Article
• Language: English
• Published: England Elsevier B.V 01.12.2024; Elsevier
• Subjects: Aged; Amyotrophic Lateral Sclerosis - genetics; Amyotrophic Lateral Sclerosis - metabolism; Amyotrophic Lateral Sclerosis - pathology; C9orf72 Protein - genetics; C9orf72 Protein - metabolism; DNA Repeat Expansion; Female; Humans; Induced Pluripotent Stem Cells - metabolism; Male
• ISSN: 1873-5061; 1876-7753; 1876-7753
• DOI: 10.1016/j.scr.2024.103540

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.