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

从三名亨廷顿氏病患者体内产生诱导性多能干细胞

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

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.

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