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 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.

Automated summary

Huntington's disease (HD) is caused by abnormal CAG repeats in the HTT gene, resulting in an elongated poly-Q sequence in HTT. In this study, fibroblasts from a patient with juvenile onset HD were reprogrammed into iPSCs using a non-integrative Sendai virus. The reprogrammed iPSCs expressed pluripotency markers, maintained a normal karyotype, and could differentiate into various cell types. PCR analysis and sequencing confirmed the presence of one normal HTT allele and one with elongated CAG repeats in the HD patient-derived iPSC line, equivalent to >= 180Q.