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


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. Copyright © 2018 The Authors. Published by Elsevier B.V. All rights reserved.

Authors Baumann H, Jahn M, Muenchau A, Trilck-Winkler M, Lohmann K, Seibler P
Journal Stem cell research
Publication Date 2018 Dec;33:60-64
PubMed 30316041
DOI 10.1016/j.scr.2018.09.018

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