Generation of four human-derived iPSC TorsinA-3xFLAG reporter lines from a DYT-TOR1A patient
A 3-bp deletion (ΔGAG) in TOR1A is a common cause of early-onset isolated dystonia DYT-TOR1A. The exact disease mechanism remains unknown. Here we describe the generation and characterization of four TorsinA-3xFLAG reporter induced pluripotent cell (iPSC) lines derived from a DYT-TOR1A patient. The...
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| Format: | Article |
| Language: | English |
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Elsevier
2024-12-01
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| Series: | Stem Cell Research |
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| Online Access: | http://www.sciencedirect.com/science/article/pii/S1873506124002939 |
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| author | Kerstin Tanzer Britta Meier Franca Vulinovic Heike Pawlack Christine Klein Philip Seibler Aleksandar Rakovic |
| author_facet | Kerstin Tanzer Britta Meier Franca Vulinovic Heike Pawlack Christine Klein Philip Seibler Aleksandar Rakovic |
| author_sort | Kerstin Tanzer |
| collection | DOAJ |
| description | A 3-bp deletion (ΔGAG) in TOR1A is a common cause of early-onset isolated dystonia DYT-TOR1A. The exact disease mechanism remains unknown. Here we describe the generation and characterization of four TorsinA-3xFLAG reporter induced pluripotent cell (iPSC) lines derived from a DYT-TOR1A patient. The cell lines carry either a ΔGAG variant or a corrected allele and a mono- or biallelic 3xFLAG-Tag introduced using CRISPR/Cas9 technology. These cells provide an opportunity to study differential protein stability, subcellular localization, and interactors of endogenous WT or ΔE variants of TorsinA in iPSCs, neural progenitor cells (smNPC), and neurons. |
| format | Article |
| id | doaj-art-4a6f35c94fcc48cd8fb438736432a6d5 |
| institution | Kabale University |
| issn | 1873-5061 |
| language | English |
| publishDate | 2024-12-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Stem Cell Research |
| spelling | doaj-art-4a6f35c94fcc48cd8fb438736432a6d52024-12-13T10:56:56ZengElsevierStem Cell Research1873-50612024-12-0181103595Generation of four human-derived iPSC TorsinA-3xFLAG reporter lines from a DYT-TOR1A patientKerstin Tanzer0Britta Meier1Franca Vulinovic2Heike Pawlack3Christine Klein4Philip Seibler5Aleksandar Rakovic6Institute of Neurogenetics, University of Lübeck, 23562 Lübeck, GermanyInstitute of Neurogenetics, University of Lübeck, 23562 Lübeck, GermanyInstitute of Neurogenetics, University of Lübeck, 23562 Lübeck, GermanyInstitute of Neurogenetics, University of Lübeck, 23562 Lübeck, GermanyInstitute of Neurogenetics, University of Lübeck, 23562 Lübeck, GermanyInstitute of Neurogenetics, University of Lübeck, 23562 Lübeck, GermanyCorresponding author.; Institute of Neurogenetics, University of Lübeck, 23562 Lübeck, GermanyA 3-bp deletion (ΔGAG) in TOR1A is a common cause of early-onset isolated dystonia DYT-TOR1A. The exact disease mechanism remains unknown. Here we describe the generation and characterization of four TorsinA-3xFLAG reporter induced pluripotent cell (iPSC) lines derived from a DYT-TOR1A patient. The cell lines carry either a ΔGAG variant or a corrected allele and a mono- or biallelic 3xFLAG-Tag introduced using CRISPR/Cas9 technology. These cells provide an opportunity to study differential protein stability, subcellular localization, and interactors of endogenous WT or ΔE variants of TorsinA in iPSCs, neural progenitor cells (smNPC), and neurons.http://www.sciencedirect.com/science/article/pii/S1873506124002939DYT-TOR1ATorsinACRISPR-Cas9iPSC |
| spellingShingle | Kerstin Tanzer Britta Meier Franca Vulinovic Heike Pawlack Christine Klein Philip Seibler Aleksandar Rakovic Generation of four human-derived iPSC TorsinA-3xFLAG reporter lines from a DYT-TOR1A patient Stem Cell Research DYT-TOR1A TorsinA CRISPR-Cas9 iPSC |
| title | Generation of four human-derived iPSC TorsinA-3xFLAG reporter lines from a DYT-TOR1A patient |
| title_full | Generation of four human-derived iPSC TorsinA-3xFLAG reporter lines from a DYT-TOR1A patient |
| title_fullStr | Generation of four human-derived iPSC TorsinA-3xFLAG reporter lines from a DYT-TOR1A patient |
| title_full_unstemmed | Generation of four human-derived iPSC TorsinA-3xFLAG reporter lines from a DYT-TOR1A patient |
| title_short | Generation of four human-derived iPSC TorsinA-3xFLAG reporter lines from a DYT-TOR1A patient |
| title_sort | generation of four human derived ipsc torsina 3xflag reporter lines from a dyt tor1a patient |
| topic | DYT-TOR1A TorsinA CRISPR-Cas9 iPSC |
| url | http://www.sciencedirect.com/science/article/pii/S1873506124002939 |
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