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 non-integrating 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.

D'Anzi, A., Altieri, F., Perciballi, E., Ferrari, D., Torres, B., Bernardini, L., et al. (2021). Generation of an induced pluripotent stem cell line (CSS012-A (7672)) carrying the p.G376D heterozygous mutation in the TARDBP protein. STEM CELL RESEARCH, 53(May 2021), 1-5 [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

Perciballi E.;Ferrari D.;Vescovi A. L.
;
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 non-integrating 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.
Articolo in rivista - Articolo scientifico
Cell Differentiation; Cell Line; Fibroblasts; Humans; Mutation; Amyotrophic Lateral Sclerosis; Induced Pluripotent Stem Cells;
English
18-apr-2021
2021
53
May 2021
1
5
102356
open
D'Anzi, A., Altieri, F., Perciballi, E., Ferrari, D., Torres, B., Bernardini, L., et al. (2021). Generation of an induced pluripotent stem cell line (CSS012-A (7672)) carrying the p.G376D heterozygous mutation in the TARDBP protein. STEM CELL RESEARCH, 53(May 2021), 1-5 [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/10281/336226
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