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...

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Bibliographic Details
Published in:Stem cell research 2024-12, Vol.81, p.103540, Article 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: Article
Language:English
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
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Summary: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.
ISSN:1873-5061
1876-7753
1876-7753
DOI:10.1016/j.scr.2024.103540