Production of CSSi013-A (9360) iPSC line from an asymptomatic subject carrying an heterozygous mutation in TDP-43 protein
oleh: Angela D'Anzi, Elisa Perciballi, Giorgia Ruotolo, Daniela Ferrari, Antonietta Notaro, Ivan Lombardi, Maurizio Gelati, Katia Frezza, Laura Bernardini, Isabella Torrente, Alessandro De Luca, Vincenzo La Bella, Angelo Luigi Vescovi, Jessica Rosati
| Format: | Article |
|---|---|
| Diterbitkan: | Elsevier 2022-08-01 |
Deskripsi
Amyotrophic Lateral Sclerosis (ALS) is a fatal disease affecting both upper and lower motoneurons. The transactive response DNA binding protein (TARDBP) gene, encoding for TDP-43, is one of the most commonly mutated gene associated with familial cases of ALS (10%). We generated a human induced pluripotent stem cell (hiPSC) line from the fibroblasts of an asymptomatic subject carrying the TARDBP p.G376D mutation. This mutation is very rare and was described in a large Apulian family, in which all ALS affected members are carriers of the mutation. The subject here described is the first identified asymptomatic carrier of the mutation.