Generation and characterization of eight human-derived iPSC lines from affected and unaffected THAP1 mutation carriers

Hauke Baumann; Magdalena Jahn; Alexander Münchau; Michaela Trilck-Winkler; Katja Lohmann; Philip Seibler

doi:10.1016/j.scr.2018.09.018

Generation and characterization of eight human-derived iPSC lines from affected and unaffected THAP1 mutation carriers

Hauke Baumann, Magdalena Jahn, Alexander Münchau, Michaela Trilck-Winkler, Katja Lohmann, Philip Seibler^*

^*Corresponding author for this work

4 Citations (Scopus)

Abstract

Mutations in THAP1 (THAP domain-containing apoptosis-associated protein 1) cause a form of early-onset, isolated dystonia (DYT-THAP1, aka DYT6). Here, we describe the generation of eight human induced pluripotent stem cell (iPSC) lines of manifesting and non-manifesting carriers of the THAP1 mutations p.Lys158Asnfs*23 or p.Arg13His (each 4 lines). Dermal fibroblasts were reprogrammed using non-integrating Sendai virus. The iPSC lines were comprehensively characterized including expression analyses of pluripotency markers, the potential to differentiate into cells of all three germ layers, and stable karyotypes. These lines provide a valuable resource for studying the impact of THAP1 mutations on the pathology of dystonia.

Original language	English
Journal	Stem Cell Research
Volume	33
Pages (from-to)	60-64
Number of pages	5
ISSN	1873-5061
DOIs	https://doi.org/10.1016/j.scr.2018.09.018
Publication status	Published - 01.12.2018

Funding

This work was funded by the German Research Foundation ( FOR2488 , LO 1555/9-1 ). We acknowledge support by the State of Schleswig-Holstein within the funding programme Open Access Publikationsfonds.

UN SDGs

This output contributes to the following UN Sustainable Development Goals (SDGs)

SDG 3 Good Health and Well-being
SDG 10 Reduced Inequalities

Research Areas and Centers

Research Area: Medical Genetics

DFG Research Classification Scheme

2.23-02 Molecular Biology and Physiology of Nerve and Glial Cells

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10.1016/j.scr.2018.09.018

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abstract = "Mutations in THAP1 (THAP domain-containing apoptosis-associated protein 1) cause a form of early-onset, isolated dystonia (DYT-THAP1, aka DYT6). Here, we describe the generation of eight human induced pluripotent stem cell (iPSC) lines of manifesting and non-manifesting carriers of the THAP1 mutations p.Lys158Asnfs*23 or p.Arg13His (each 4 lines). Dermal fibroblasts were reprogrammed using non-integrating Sendai virus. The iPSC lines were comprehensively characterized including expression analyses of pluripotency markers, the potential to differentiate into cells of all three germ layers, and stable karyotypes. These lines provide a valuable resource for studying the impact of THAP1 mutations on the pathology of dystonia.",

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T1 - Generation and characterization of eight human-derived iPSC lines from affected and unaffected THAP1 mutation carriers

AU - Baumann, Hauke

AU - Jahn, Magdalena

AU - Münchau, Alexander

AU - Trilck-Winkler, Michaela

AU - Lohmann, Katja

AU - Seibler, Philip

PY - 2018/12/1

Y1 - 2018/12/1

N2 - Mutations in THAP1 (THAP domain-containing apoptosis-associated protein 1) cause a form of early-onset, isolated dystonia (DYT-THAP1, aka DYT6). Here, we describe the generation of eight human induced pluripotent stem cell (iPSC) lines of manifesting and non-manifesting carriers of the THAP1 mutations p.Lys158Asnfs*23 or p.Arg13His (each 4 lines). Dermal fibroblasts were reprogrammed using non-integrating Sendai virus. The iPSC lines were comprehensively characterized including expression analyses of pluripotency markers, the potential to differentiate into cells of all three germ layers, and stable karyotypes. These lines provide a valuable resource for studying the impact of THAP1 mutations on the pathology of dystonia.

AB - Mutations in THAP1 (THAP domain-containing apoptosis-associated protein 1) cause a form of early-onset, isolated dystonia (DYT-THAP1, aka DYT6). Here, we describe the generation of eight human induced pluripotent stem cell (iPSC) lines of manifesting and non-manifesting carriers of the THAP1 mutations p.Lys158Asnfs*23 or p.Arg13His (each 4 lines). Dermal fibroblasts were reprogrammed using non-integrating Sendai virus. The iPSC lines were comprehensively characterized including expression analyses of pluripotency markers, the potential to differentiate into cells of all three germ layers, and stable karyotypes. These lines provide a valuable resource for studying the impact of THAP1 mutations on the pathology of dystonia.

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DO - 10.1016/j.scr.2018.09.018

M3 - Journal articles

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SN - 1873-5061

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ER -

Generation and characterization of eight human-derived iPSC lines from affected and unaffected THAP1 mutation carriers

Abstract

Funding

UN SDGs

Research Areas and Centers

DFG Research Classification Scheme

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