Production of CSSi013-A (9360) iPSC line from an asymptomatic subject carrying an heterozygous mutation in TDP-43 protein
Summary
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. Copyright © 2022. Published by Elsevier B.V.
| Authors | D'Anzi A, Perciballi E, Ruotolo G, Ferrari D, Notaro A, Lombardi I, Gelati M, Frezza K, Bernardini L, Torrente I, De Luca A, La Bella V, Luigi Vescovi A, Rosati J |
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| Journal | Stem cell research |
| Publication Date | 2022 Aug;63:102835 |
| PubMed | 35714448 |
| DOI | 10.1016/j.scr.2022.102835 |