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

doi:10.1016/j.scr.2022.102976

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 journal › Article › peer-review

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 language	English
Pages (from-to)	102976
Journal	Stem Cell Research
Volume	65
Early online date	17 Nov 2022
DOIs	https://doi.org/10.1016/j.scr.2022.102976
Publication status	Published - Dec 2022

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10.1016/j.scr.2022.102976

1-s2.0-S1873506122003257-main (1)Final published version, 3.21 MBLicence: CC BY-NC-ND

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title = "Generation of induced pluripotent stem cells from three individuals with Huntington's disease",

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.",

author = "Miller, {Duncan C} and Pawel Lisowski and Selene Lickfett and Barbara Mlody and Miriam B{\"u}nning and Carolin Genehr and Claas Ulrich and Wanker, {Erich E} and Sebastian Diecke and Josef Priller and Alessandro Prigione",

year = "2022",

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language = "English",

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T1 - Generation of induced pluripotent stem cells from three individuals with Huntington's disease

AU - Miller, Duncan C

AU - Lisowski, Pawel

AU - Lickfett, Selene

AU - Mlody, Barbara

AU - Bünning, Miriam

AU - Genehr, Carolin

AU - Ulrich, Claas

AU - Wanker, Erich E

AU - Diecke, Sebastian

AU - Priller, Josef

AU - Prigione, Alessandro

PY - 2022/12

Y1 - 2022/12

N2 - 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.

AB - 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.

U2 - 10.1016/j.scr.2022.102976

DO - 10.1016/j.scr.2022.102976

M3 - Article

C2 - 36434993

VL - 65

SP - 102976

JO - Stem Cell Research

JF - Stem Cell Research

SN - 1873-5061

ER -

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

Abstract

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