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| Item Type: | Article |
|---|---|
| Title: | Generation of an induced pluripotent stem cell line from a Huntington's disease patient with a long HTT-PolyQ sequence |
| Creators Name: | Miller, D.C., Lisowski, P., Genehr, C., Wanker, E.E., Priller, J., Prigione, A. and Diecke, S. |
| Abstract: | 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. |
| Keywords: | Cell Line, Huntingtin Protein, Huntington Disease, Induced Pluripotent Stem Cells, Peptides |
| Source: | Stem Cell Research |
| ISSN: | 1873-5061 |
| Publisher: | Elsevier |
| Volume: | 68 |
| Page Range: | 103056 |
| Date: | April 2023 |
| Official Publication: | https://doi.org/10.1016/j.scr.2023.103056 |
| PubMed: | View item in PubMed |
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