Generation of an induced pluripotent stem cell line from a Huntington’s disease patient with a long HTT-PolyQ sequence
Huntington’s disease (HD) is an inherited neurodegenerative disorder caused by an abnormal length of CAG repeats in the gene HTT, leading to an elongated poly-glutamine (poly-Q) sequence in huntingtin (HTT). We used non-integrative Sendai virus to reprogram fibroblasts from a patient with juvenile o...
| Main Authors: | , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Elsevier
2023-04-01
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| Series: | Stem Cell Research |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S1873506123000429 |
| _version_ | 1797870588169027584 |
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| author | Duncan C. Miller Pawel Lisowski Carolin Genehr Erich E. Wanker Josef Priller Alessandro Prigione Sebastian Diecke |
| author_facet | Duncan C. Miller Pawel Lisowski Carolin Genehr Erich E. Wanker Josef Priller Alessandro Prigione Sebastian Diecke |
| author_sort | Duncan C. Miller |
| collection | DOAJ |
| description | Huntington’s disease (HD) is an inherited neurodegenerative disorder caused by an abnormal length of CAG repeats in the gene HTT, leading to an elongated poly-glutamine (poly-Q) sequence in huntingtin (HTT). We used non-integrative Sendai virus to reprogram fibroblasts from a patient with juvenile onset HD to induced pluripotent stem cells (iPSCs). Reprogrammed iPSCs expressed pluripotency-associated markers, exhibited a normal karyotype, and following directed differentiation generated cell types belonging to the three germ layers. PCR analysis and sequencing confirmed the HD patient-derived iPSC line had one normal HTT allele and one with elongated CAG repeats, equivalent to ≥180Q. |
| first_indexed | 2024-04-10T00:29:46Z |
| format | Article |
| id | doaj.art-5ee51186bc8e4931ae2ca8332a5817d8 |
| institution | Directory Open Access Journal |
| issn | 1873-5061 |
| language | English |
| last_indexed | 2024-04-10T00:29:46Z |
| publishDate | 2023-04-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Stem Cell Research |
| spelling | doaj.art-5ee51186bc8e4931ae2ca8332a5817d82023-03-15T04:27:31ZengElsevierStem Cell Research1873-50612023-04-0168103056Generation of an induced pluripotent stem cell line from a Huntington’s disease patient with a long HTT-PolyQ sequenceDuncan C. Miller0Pawel Lisowski1Carolin Genehr2Erich E. Wanker3Josef Priller4Alessandro Prigione5Sebastian Diecke6Max Delbrück Center for Molecular Medicine (MDC), Berlin, Germany; DZHK (German Centre for Cardiovascular Research), partner site Berlin, Berlin, GermanyBerlin Institute for Medical Systems Biology (BIMSB), Max Delbrück Center for Molecular Medicine (MDC), Berlin, Germany; Institute of Genetics and Animal Biotechnology, Polish Academy of Sciences, Magdalenka n/ Warsaw, Poland; Department of Psychiatry and Neurosciences, Charité − Universitätsmedizin, Berlin, GermanyMax Delbrück Center for Molecular Medicine (MDC), Berlin, GermanyMax Delbrück Center for Molecular Medicine (MDC), Berlin, GermanyDepartment of Psychiatry and Neurosciences, Charité − Universitätsmedizin, Berlin, Germany; University of Edinburgh and UK DRI, Edinburgh, UKMax Delbrück Center for Molecular Medicine (MDC), Berlin, Germany; Department of General Pediatrics, Neonatology and Pediatric Cardiology, Medical Faculty, Heinrich Heine University, Düsseldorf, Germany; Corresponding authors at: Max Delbrück Center for Molecular Medicine (MDC), Berlin, Germany.Max Delbrück Center for Molecular Medicine (MDC), Berlin, Germany; DZHK (German Centre for Cardiovascular Research), partner site Berlin, Berlin, Germany; Corresponding authors at: Max Delbrück Center for Molecular Medicine (MDC), Berlin, Germany.Huntington’s disease (HD) is an inherited neurodegenerative disorder caused by an abnormal length of CAG repeats in the gene HTT, leading to an elongated poly-glutamine (poly-Q) sequence in huntingtin (HTT). We used non-integrative Sendai virus to reprogram fibroblasts from a patient with juvenile onset HD to induced pluripotent stem cells (iPSCs). Reprogrammed iPSCs expressed pluripotency-associated markers, exhibited a normal karyotype, and following directed differentiation generated cell types belonging to the three germ layers. PCR analysis and sequencing confirmed the HD patient-derived iPSC line had one normal HTT allele and one with elongated CAG repeats, equivalent to ≥180Q.http://www.sciencedirect.com/science/article/pii/S1873506123000429 |
| spellingShingle | Duncan C. Miller Pawel Lisowski Carolin Genehr Erich E. Wanker Josef Priller Alessandro Prigione Sebastian Diecke Generation of an induced pluripotent stem cell line from a Huntington’s disease patient with a long HTT-PolyQ sequence Stem Cell Research |
| title | Generation of an induced pluripotent stem cell line from a Huntington’s disease patient with a long HTT-PolyQ sequence |
| title_full | Generation of an induced pluripotent stem cell line from a Huntington’s disease patient with a long HTT-PolyQ sequence |
| title_fullStr | Generation of an induced pluripotent stem cell line from a Huntington’s disease patient with a long HTT-PolyQ sequence |
| title_full_unstemmed | Generation of an induced pluripotent stem cell line from a Huntington’s disease patient with a long HTT-PolyQ sequence |
| title_short | Generation of an induced pluripotent stem cell line from a Huntington’s disease patient with a long HTT-PolyQ sequence |
| title_sort | generation of an induced pluripotent stem cell line from a huntington s disease patient with a long htt polyq sequence |
| url | http://www.sciencedirect.com/science/article/pii/S1873506123000429 |
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