Generation of induced pluripotent stem cells from three individuals with Huntington‘s disease

Duncan C. Miller, Pawel Lisowski, Selene Lickfett, Barbara Mlody, Miriam Bünning, Carolin Genehr, Claas Ulrich, Erich E. Wanker, Sebastian Diecke, Josef Priller, Alessandro Prigione

Research output: Contribution to journalArticlepeer-review

2 Scopus citations

Abstract

Huntington's disease (HD) is a neurodegenerative disorder caused by abnormal glutamine (Q) expansion in the huntingtin protein due to elongated CAG repeats in the gene HTT. We used non-integrative episomal plasmids to generate induced pluripotent stem cells (iPSCs) from three individuals affected by HD: CH1 (58Q), and two twin brothers CH3 (44Q) and CH4 (44Q). The iPSC lines exhibited one healthy HTT allele and one with elongated CAG repeats, as confirmed by PCR and sequencing. All iPSC lines expressed pluripotency markers, exhibited a normal karyotype, and generated cells of the three germ layers in vitro.

Original languageEnglish
Article number102976
JournalStem Cell Research
Volume65
DOIs
StatePublished - Dec 2022

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