Generation of an induced pluripotent stem cell line (UCSCi002-A) from a patient with a variant in TARDBP gene associated with familial amyotrophic lateral sclerosis and frontotemporal dementia

Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease that selectively affects motor neurons. In 20% of cases, ALS appears in comorbidity with frontotemporal dementia (FTD). We generated patient-derived-induced Pluripotent Stem Cells (iPSCs), from an ALS/FTD patient. The patient h...

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Published in:Stem cell research 2022-07, Vol.62, p.102825-102825, Article 102825
Main Authors: Martello, Francesco, Lattante, Serena, Doronzio, Paolo Niccolò, Conte, Amelia, Bisogni, Giulia, Orteschi, Daniela, Luigetti, Marco, Marrucci, Maria Alessandra, Zollino, Marcella, Sabatelli, Mario, Marangi, Giuseppe
Format: Article
Language:English
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Summary:Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease that selectively affects motor neurons. In 20% of cases, ALS appears in comorbidity with frontotemporal dementia (FTD). We generated patient-derived-induced Pluripotent Stem Cells (iPSCs), from an ALS/FTD patient. The patient had a familial form of the disease and a missense variant in TARDBP gene. We used an established protocol based on Sendai virus to reprogram fibroblasts. We confirmed the stemness and the pluripotency of the iPSC clones, thus generating embryoid bodies. We believe that the iPSC line carrying a TARDBP mutation could be a valuable tool to investigate TDP-43 proteinopathy linked to ALS.
ISSN:1873-5061
1876-7753
DOI:10.1016/j.scr.2022.102825