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

被引：0
|
作者：
Miller, Duncan C. [1 ,2 ]
Lisowski, Pawel [3 ,4 ,5 ]
Genehr, Carolin [1 ]
Wanker, Erich E. [1 ]
Priller, Josef [5 ,6 ,7 ]
Prigione, Alessandro [1 ,8 ]
Diecke, Sebastian [1 ,2 ]
机构：
[1] Max Delbruck Ctr Mol Med MDC, Berlin, Germany
[2] DZHK German Ctr Cardiovasc Res, Partner Site Berlin, Berlin, Germany
[3] Max Delbruck Ctr Mol Med MDC, Berlin Inst Med Syst Biol BIMSB, Berlin, Germany
[4] Polish Acad Sci, Inst Genet & Anim Biotechnol, Warsaw, Poland
[5] Charite, Dept Psychiat & Neurosci, Berlin, Germany
[6] Univ Edinburgh, Edinburgh, Scotland
[7] UK DRI, Edinburgh, Scotland
[8] Heinrich Heine Univ, Med Fac, Dept Gen Pediat Neonatol & Pediat Cardiol, Dusseldorf, Germany
来源：
STEM CELL RESEARCH | 2023年 / 68卷
关键词：
D O I：
10.1016/j.scr.2023.103056
中图分类号：
Q813 [细胞工程];
学科分类号：
摘要：
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.
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页数：4
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