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

Summary

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. Copyright © 2022 The Author(s). Published by Elsevier B.V. All rights reserved.

Authors Miller DC, Lisowski P, Lickfett S, Mlody B, Bünning M, Genehr C, Ulrich C, Wanker EE, Diecke S, Priller J, Prigione A
Journal Stem cell research
Publication Date 2022 Dec;65:102976
PubMed 36434993
DOI 10.1016/j.scr.2022.102976

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