Correction of the Allan-Herndon-Dudley syndrome-causing SLC16A2 mutation G401R in a patient derived hiPSC line
The X-linked Allan-Herndon-Dudley syndrome (AHDS) is a genetic disorder characterized by severe psychomotor impairment, resulting from mutations in the SLC16A2 gene, which encodes the thyroid hormone transporter MCT8 (monocarboxylate transporter 8). Previously, we established a hiPSC line from a pat...
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| Format: | Article |
| Language: | English |
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Elsevier
2025-06-01
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| Series: | Stem Cell Research |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S1873506125000480 |
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| author | Katarzyna A. Ludwik Robert Opitz Sabine Jyrch Matthias Megges Peter Kühnen Harald Stachelscheid |
| author_facet | Katarzyna A. Ludwik Robert Opitz Sabine Jyrch Matthias Megges Peter Kühnen Harald Stachelscheid |
| author_sort | Katarzyna A. Ludwik |
| collection | DOAJ |
| description | The X-linked Allan-Herndon-Dudley syndrome (AHDS) is a genetic disorder characterized by severe psychomotor impairment, resulting from mutations in the SLC16A2 gene, which encodes the thyroid hormone transporter MCT8 (monocarboxylate transporter 8). Previously, we established a hiPSC line from a patient carrying the SLC16A2:R401G mutation (BIHi045-A). Using CRISPR/Cas9-mediated gene editing, we targeted exon 3 of SLC16A2 and used single-stranded oligodeoxynucleotides as homology-directed repair templates to correct the R401G missense mutation, generating an isogenic control cell line. |
| format | Article |
| id | doaj-art-518bab7ff8f44caba4f49e42422276e9 |
| institution | OA Journals |
| issn | 1873-5061 |
| language | English |
| publishDate | 2025-06-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Stem Cell Research |
| spelling | doaj-art-518bab7ff8f44caba4f49e42422276e92025-08-20T02:24:33ZengElsevierStem Cell Research1873-50612025-06-018510369810.1016/j.scr.2025.103698Correction of the Allan-Herndon-Dudley syndrome-causing SLC16A2 mutation G401R in a patient derived hiPSC lineKatarzyna A. Ludwik0Robert Opitz1Sabine Jyrch2Matthias Megges3Peter Kühnen4Harald Stachelscheid5Berlin Institute of Health at Charité - Universitätsmedizin Berlin, Core Unit Pluripotent Stem Cells and Organoids, 13353 Berlin, GermanyDepartment of Pediatric Endocrinology and Diabetology, Charité - Universitätsmedizin Berlin 13353 Berlin, GermanyDepartment of Pediatric Endocrinology and Diabetology, Charité - Universitätsmedizin Berlin 13353 Berlin, GermanyDepartment of Pediatric Endocrinology and Diabetology, Charité - Universitätsmedizin Berlin 13353 Berlin, GermanyDepartment of Pediatric Endocrinology and Diabetology, Charité - Universitätsmedizin Berlin 13353 Berlin, Germany; German Center for Child and Adolescent Health (DZKJ), partner site Berlin, Germany; Corresponding authors.Berlin Institute of Health at Charité - Universitätsmedizin Berlin, Core Unit Pluripotent Stem Cells and Organoids, 13353 Berlin, Germany; Corresponding authors.The X-linked Allan-Herndon-Dudley syndrome (AHDS) is a genetic disorder characterized by severe psychomotor impairment, resulting from mutations in the SLC16A2 gene, which encodes the thyroid hormone transporter MCT8 (monocarboxylate transporter 8). Previously, we established a hiPSC line from a patient carrying the SLC16A2:R401G mutation (BIHi045-A). Using CRISPR/Cas9-mediated gene editing, we targeted exon 3 of SLC16A2 and used single-stranded oligodeoxynucleotides as homology-directed repair templates to correct the R401G missense mutation, generating an isogenic control cell line.http://www.sciencedirect.com/science/article/pii/S1873506125000480 |
| spellingShingle | Katarzyna A. Ludwik Robert Opitz Sabine Jyrch Matthias Megges Peter Kühnen Harald Stachelscheid Correction of the Allan-Herndon-Dudley syndrome-causing SLC16A2 mutation G401R in a patient derived hiPSC line Stem Cell Research |
| title | Correction of the Allan-Herndon-Dudley syndrome-causing SLC16A2 mutation G401R in a patient derived hiPSC line |
| title_full | Correction of the Allan-Herndon-Dudley syndrome-causing SLC16A2 mutation G401R in a patient derived hiPSC line |
| title_fullStr | Correction of the Allan-Herndon-Dudley syndrome-causing SLC16A2 mutation G401R in a patient derived hiPSC line |
| title_full_unstemmed | Correction of the Allan-Herndon-Dudley syndrome-causing SLC16A2 mutation G401R in a patient derived hiPSC line |
| title_short | Correction of the Allan-Herndon-Dudley syndrome-causing SLC16A2 mutation G401R in a patient derived hiPSC line |
| title_sort | correction of the allan herndon dudley syndrome causing slc16a2 mutation g401r in a patient derived hipsc line |
| url | http://www.sciencedirect.com/science/article/pii/S1873506125000480 |
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