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

Serena Lattante, Mario Sabatelli, Angela D'Anzi, Filomena Altieri, Elisa Perciballi, Daniela Ferrari, Barbara Torres, Laura Bernardini, Angelo Luigi Vescovi, Jessica Rosati

Risultato della ricerca: Contributo in rivistaArticolo in rivista

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.
Lingua originaleEnglish
pagine (da-a)102356-102356
Numero di pagine1
RivistaStem Cell Research
Volume53
DOI
Stato di pubblicazionePubblicato - 2021

Keywords

  • Amyotrophic Lateral Sclerosis
  • Cell Differentiation
  • Cell Line
  • Fibroblasts
  • Humans
  • Induced Pluripotent Stem Cells
  • Mutation

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