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

Publication date: Available online 1 October 2018Source: Stem Cell ResearchAuthor(s): Hauke Baumann, Magdalena Jahn, Alexander Muenchau, Michaela Trilck-Winkler, Katja Lohmann, Philip SeiblerAbstractMutations 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.
Source: Stem Cell Research - Category: Stem Cells Source Type: research