Induced pluripotent stem cells from patients with huntington’s disease show CAG repeat expansion associated phenotypes

Virginia B. Mattis, Soshana P. Svendsen, Allison Ebert, Clive N. Svendsen, Alvin R. King, Malcolm Casale, Sara T. Winokur, Gayani Batugedara, Marquis Vawter, Peter J. Donovan, Leslie F. Lock, Leslie M. Thompson, Yu Zhu, Elisa Fossale, Ranjit Singh Atwal, Tammy Gillis, Jayalakshmi Mysore, Jian Hong Li, Ihnsik Seong, Yiping ShenXiaoli Chen, Vanessa C. Wheeler, Marcy E. Macdonald, James F. Gusella, Sergey Akimov, Nicolas Arbez, Tarja Juopperi, Tamara Ratovitski, Jason H. Chiang, Woon Roung Kim, Eka Chighladze, Erin Watkin, Chun Zhong, Georgia Makri, Robert N. Cole, Russell L. Margolis, Hongjun Song, Guoli Ming, Christopher A. Ross, Julia A. Kaye, Aaron Daub, Punita Sharma, Amanda R. Mason, Steven Finkbeiner, Junying Yu, James A. Thomson, David Rushton, Stephen P. Brazier, Alysia A. Battersby, Amanda Redfern, Hsui Er Tseng, Alexander W. Harrison, Paul J. Kemp, Nicholas D. Allen, Marco Onorati, Valentina Castiglioni, Elena Cattaneo, Jamshid Arjomand

Research output: Contribution to journalArticlepeer-review

331 Scopus citations


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 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 vulnerable to cellular stressors and BDNF withdrawal using a range of assays across consortium laboratories. The HD iPSC collection represents a unique and well-characterized resource to elucidate disease mechanisms in HD and provides a novel human stem cell platform for screening new candidate therapeutics.

Original languageEnglish (US)
Pages (from-to)264-278
Number of pages15
JournalCell stem cell
Issue number2
StatePublished - Aug 3 2012

ASJC Scopus subject areas

  • Molecular Medicine
  • Genetics
  • Cell Biology


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