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


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. Copyright © 2021 The Author(s). Published by Elsevier B.V. All rights reserved.

Authors D'Anzi A, Altieri F, Perciballi E, Ferrari D, Torres B, Bernardini L, Lattante S, Sabatelli M, Vescovi AL, Rosati J
Journal Stem cell research
Publication Date 2021 May;53:102356
PubMed 34087986
DOI 10.1016/j.scr.2021.102356

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