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

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

Research Areas and Centers

Research Area: Medical Genetics

DFG Research Classification Scheme

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

UN SDGs

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

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10.1016/j.scr.2018.09.018

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

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

Abstract

Research Areas and Centers

DFG Research Classification Scheme

UN SDGs

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