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

Stem Cell Res

Cellular Reprogramming Unit, Fondazione I.R.C.C.S. Casa Sollievo della Sofferenza, Viale dei Cappuccini, 71013 San Giovanni Rotondo, Foggia, Italy. Electronic address:

Published: May 2021

AI Article Synopsis

  • Amyotrophic lateral sclerosis (ALS) is a serious and incurable neurodegenerative disease with various genetic and phenotypic variations.
  • Researchers created a new induced pluripotent stem cell (iPSC) line from skin cells of a person with a specific mutation in the TDP-43 protein that is linked to ALS.
  • The new iPSC line showed no chromosomal issues and could differentiate into the three main cell types, making it a valuable tool for studying ALS-related disease mechanisms.

Article 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.

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http://dx.doi.org/10.1016/j.scr.2021.102356DOI Listing

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