Amyotrophic lateral sclerosis (ALS) is an incurable neurodegenerative condition with phenotypic and genetic heterogeneity. It is characterized by the selective vulnerability and the progressive loss of the neural population. Here, an induced pluripotent stem cell (iPSC) line was generated from dermal fibroblasts of an individual carrying the p.G376D mutation in the TDP-43 protein. Fibroblasts were reprogrammed using nonintegrating episomal plasmids. There were no karyotype abnormalities, and iPSCs successfully differentiated into all three germ layers. This cell line may prove useful in the study of the pathogenic mechanisms that underpin ALS syndrome.

Generation of an induced pluripotent stem cell line (CSS012-A (7672)) carrying the p.G376D heterozygous mutation in the TARDBP protein / D'Anzi, Angela; Altieri, Filomena; Perciballi, Elisa; Ferrari, Daniela; Torres, Barbara; Bernardini, Laura; Lattante, Serena; Sabatelli, Mario; Luigi Vescovi, Angelo; Rosati, Jessica. - In: STEM CELL RESEARCH. - ISSN 1873-5061. - 53:(2021). [10.1016/j.scr.2021.102356]

Generation of an induced pluripotent stem cell line (CSS012-A (7672)) carrying the p.G376D heterozygous mutation in the TARDBP protein

D'Anzi, Angela;
2021

Abstract

Amyotrophic lateral sclerosis (ALS) is an incurable neurodegenerative condition with phenotypic and genetic heterogeneity. It is characterized by the selective vulnerability and the progressive loss of the neural population. Here, an induced pluripotent stem cell (iPSC) line was generated from dermal fibroblasts of an individual carrying the p.G376D mutation in the TDP-43 protein. Fibroblasts were reprogrammed using nonintegrating episomal plasmids. There were no karyotype abnormalities, and iPSCs successfully differentiated into all three germ layers. This cell line may prove useful in the study of the pathogenic mechanisms that underpin ALS syndrome.
2021
TARDBP, hiPSC, familial ALS
01 Pubblicazione su rivista::01a Articolo in rivista
Generation of an induced pluripotent stem cell line (CSS012-A (7672)) carrying the p.G376D heterozygous mutation in the TARDBP protein / D'Anzi, Angela; Altieri, Filomena; Perciballi, Elisa; Ferrari, Daniela; Torres, Barbara; Bernardini, Laura; Lattante, Serena; Sabatelli, Mario; Luigi Vescovi, Angelo; Rosati, Jessica. - In: STEM CELL RESEARCH. - ISSN 1873-5061. - 53:(2021). [10.1016/j.scr.2021.102356]
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11573/1543830
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