Generation of an induced pluripotent stem cell line from a Huntington's disease patient with a long HTT-PolyQ sequence

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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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