Generation of induced pluripotent stem cell line, CSSi004-A (2962), from a patient diagnosed with Huntington's disease at the presymptomatic stage

Eris Bidollari, Giovannina Rotundo, Daniela Ferrari, Ornella Candido, Laura Bernardini, Federica Consoli, Alessandro De Luca, Iolanda Santimone, Giuseppe Lamorte, Andrea Ilari, Ferdinando Squitieri, Angelo Luigi Vescovi, Jessica Rosati

Research output: Contribution to journalArticlepeer-review

Abstract

Huntington's disease (HD) is an incurable, autosomal dominant, hereditary neurodegenerative disorder that typically manifests itself in midlife. This pathology is linked to the deregulation of multiple, as yet unknown, cellular processes starting before HD onset. A human iPS cell line was generated from skin fibroblasts of a subject at the presymptomatic life stage, carrying a polyglutamine expansion in HTT gene codifying Huntingtin protein. The iPSC line contained the expected CAG expansion, expressed the expected pluripotency markers, displayed in vivo differentiation potential to the three germ layers and had a normal karyotype.

Original languageEnglish
Pages (from-to)145-148
Number of pages4
JournalStem Cell Research
Volume28
DOIs
Publication statusPublished - Apr 1 2018

ASJC Scopus subject areas

  • Developmental Biology
  • Cell Biology

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