Induced pluripotent stem cells from patients with Huntington's Disease show CAG-repeat-expansion-associated phenotypes
- Mattis, V. B.
- Svendsen, S. P.
- Ebert, A.
- Svendsen, C. N.
- King, A. R.
- Casale, M.
- Winokur, S. T.
- Batugedara, G.
- Vawter, M.
- Donovan, P. J.
- Lock, L. F.
- Thompson, L. M.
- Atwal, R. S.
- Zhu, Y.
- Fossale, E.
- Gillis, T.
- Mysore, J.
- Li, J.-H.
- Seong, I. S.
- Shen, Y.
- Chen, X.
- Wheeler, V. C.
- MacDonald, M. E.
- Gusella, J. F.
- Akimov, S.
- Arbez, N.
- Juopperi, T.
- Ratovitski, T.
- Chiang, J. H.
- Kim, W. R.
- Chighladze, E.
- Watkin, E.
- Zhong, C.
- Makri, G.
- Cole, R. N.
- Margolis, R. L.
- Song, H.
- Ming, G.
- Ross, C. A.
- Kaye, J. A.
- Daub, A.
- Sharma, P.
- Mason, A. R.
- Finkbeiner, S.
- Rushton, David J.
- Brazier, Stephen Paul
- Battersby, Alysia Agnes
- Redfern, Amanda Jane
- Tseng, Hsiu-Er
- Harrison, Alexander William John
- Kemp, Paul J.
- Allen, Nicholas Denby
- Castiglioni, V.
- Onorati, M.
- Cattaneo, E.
- Yu, J.
- Thomson, J. A.
- Arjomand, J.
- The HD iPSC Consortium
DOIAbstract
Huntington's disease (HD) is an inherited neurodegenerative disorder caused by an expanded stretch of CAG trinucleotide repeats that results in neuronal dysfunction and death. Here, The HD Consortium reports the generation and characterization of 14 induced pluripotent stem cell (iPSC) lines from HD patients and controls. Microarray profiling revealed CAG-repeat-expansion-associated gene expression patterns that distinguish patient lines from controls, and early onset versus late onset HD. Differentiated HD neural cells showed disease-associated changes in electrophysiology, metabolism, cell adhesion, and ultimately cell death for lines with both medium and longer CAG repeat expansions. The longer repeat lines were however the most vulnerab...
Add to ORKG