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

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

Research output: Contribution to journalArticlepeer-review

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.

Original languageEnglish (US)
Article number102356
JournalStem Cell Research
Volume53
DOIs
StatePublished - May 2021

ASJC Scopus subject areas

  • Developmental Biology
  • Cell Biology

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