Creation of an open-access, mutation-defined fibroblast resource for neurological disease research

Selina Wray, Matthew Self, Patrick A. Lewis, Jan Willem Taanman, Natalie S. Ryan, Colin J. Mahoney, Yuying Liang, Michael J. Devine, Una Marie Sheerin, Henry Houlden, Huw R. Morris, Daniel Healy, Jose Felix Marti-Masso, Elisavet Preza, Suzanne Barker, Margaret Sutherland, Roderick A. Corriveau, Michael D'Andrea, Anthony H V Schapira, Ryan J. UittiMark Guttman, Grzegorz Opala, Barbara Jasinska-Myga, Andreas Puschmann, Christer Nilsson, Alberto J. Espay, Jaroslaw Slawek, Ludwig Gutmann, Bradley F Boeve, Kevin Boylan, A. Jon Stoessl, Owen A Ross, Nicholas J. Maragakis, Jay A Van Gerpen, Melissa Gerstenhaber, Katrina Gwinn, Ted M. Dawson, Ole Isacson, Karen S. Marder, Lorraine N. Clark, Serge E. Przedborski, Steven Finkbeiner, Jeffrey D. Rothstein, Zbigniew K Wszolek, Martin N. Rossor, John Hardy, James F. Gusella, Marcy E. MacDonald, Vanessa C. Wheeler, Christopher A. Ross, Sergey Akimov, Jamshid Arjomand, Leslie M. Thompson, Alvin King, Neal Hermanowicz, Sara Winokur, Clive N. Svendsen, Virginia Mattis, Marco Onorati, Elena Cattaneo, Nicholas D. Allen, Paul J. Kemp, Kwang Soo Kim, Serge Przedborski, Jian Feng, Virginia M Y Lee, John Q. Trojanowski, D. James Surmeier, Christopher E. Henderson, Tom Maniatis, Kevin Eggan, Merit E. Cudowicz

Research output: Contribution to journalArticle

31 Citations (Scopus)

Abstract

Our understanding of the molecular mechanisms of many neurological disorders has been greatly enhanced by the discovery of mutations in genes linked to familial forms of these diseases. These have facilitated the generation of cell and animal models that can be used to understand the underlying molecular pathology. Recently, there has been a surge of interest in the use of patient-derived cells, due to the development of induced pluripotent stem cells and their subsequent differentiation into neurons and glia. Access to patient cell lines carrying the relevant mutations is a limiting factor for many centres wishing to pursue this research. We have therefore generated an open-access collection of fibroblast lines from patients carrying mutations linked to neurological disease. These cell lines have been deposited in the National Institute for Neurological Disorders and Stroke (NINDS) Repository at the Coriell Institute for Medical Research and can be requested by any research group for use in in vitro disease modelling. There are currently 71 mutation-defined cell lines available for request from a wide range of neurological disorders and this collection will be continually expanded. This represents a significant resource that will advance the use of patient cells as disease models by the scientific community.

Original languageEnglish (US)
Article numbere43099
JournalPLoS One
Volume7
Issue number8
DOIs
StatePublished - Aug 27 2012

Fingerprint

Fibroblasts
fibroblasts
nervous system diseases
mutation
Mutation
Cells
cell lines
Nervous System Diseases
Research
Cell Line
National Institute of Neurological Disorders and Stroke
Induced Pluripotent Stem Cells
Molecular Pathology
disease models
biomedical research
Pathology
cells
Stem cells
stroke
Neuroglia

ASJC Scopus subject areas

  • Agricultural and Biological Sciences(all)
  • Biochemistry, Genetics and Molecular Biology(all)
  • Medicine(all)

Cite this

Wray, S., Self, M., Lewis, P. A., Taanman, J. W., Ryan, N. S., Mahoney, C. J., ... Cudowicz, M. E. (2012). Creation of an open-access, mutation-defined fibroblast resource for neurological disease research. PLoS One, 7(8), [e43099]. https://doi.org/10.1371/journal.pone.0043099

Creation of an open-access, mutation-defined fibroblast resource for neurological disease research. / Wray, Selina; Self, Matthew; Lewis, Patrick A.; Taanman, Jan Willem; Ryan, Natalie S.; Mahoney, Colin J.; Liang, Yuying; Devine, Michael J.; Sheerin, Una Marie; Houlden, Henry; Morris, Huw R.; Healy, Daniel; Marti-Masso, Jose Felix; Preza, Elisavet; Barker, Suzanne; Sutherland, Margaret; Corriveau, Roderick A.; D'Andrea, Michael; Schapira, Anthony H V; Uitti, Ryan J.; Guttman, Mark; Opala, Grzegorz; Jasinska-Myga, Barbara; Puschmann, Andreas; Nilsson, Christer; Espay, Alberto J.; Slawek, Jaroslaw; Gutmann, Ludwig; Boeve, Bradley F; Boylan, Kevin; Jon Stoessl, A.; Ross, Owen A; Maragakis, Nicholas J.; Van Gerpen, Jay A; Gerstenhaber, Melissa; Gwinn, Katrina; Dawson, Ted M.; Isacson, Ole; Marder, Karen S.; Clark, Lorraine N.; Przedborski, Serge E.; Finkbeiner, Steven; Rothstein, Jeffrey D.; Wszolek, Zbigniew K; Rossor, Martin N.; Hardy, John; Gusella, James F.; MacDonald, Marcy E.; Wheeler, Vanessa C.; Ross, Christopher A.; Akimov, Sergey; Arjomand, Jamshid; Thompson, Leslie M.; King, Alvin; Hermanowicz, Neal; Winokur, Sara; Svendsen, Clive N.; Mattis, Virginia; Onorati, Marco; Cattaneo, Elena; Allen, Nicholas D.; Kemp, Paul J.; Kim, Kwang Soo; Przedborski, Serge; Feng, Jian; Lee, Virginia M Y; Trojanowski, John Q.; James Surmeier, D.; Henderson, Christopher E.; Maniatis, Tom; Eggan, Kevin; Cudowicz, Merit E.

In: PLoS One, Vol. 7, No. 8, e43099, 27.08.2012.

Research output: Contribution to journalArticle

Wray, S, Self, M, Lewis, PA, Taanman, JW, Ryan, NS, Mahoney, CJ, Liang, Y, Devine, MJ, Sheerin, UM, Houlden, H, Morris, HR, Healy, D, Marti-Masso, JF, Preza, E, Barker, S, Sutherland, M, Corriveau, RA, D'Andrea, M, Schapira, AHV, Uitti, RJ, Guttman, M, Opala, G, Jasinska-Myga, B, Puschmann, A, Nilsson, C, Espay, AJ, Slawek, J, Gutmann, L, Boeve, BF, Boylan, K, Jon Stoessl, A, Ross, OA, Maragakis, NJ, Van Gerpen, JA, Gerstenhaber, M, Gwinn, K, Dawson, TM, Isacson, O, Marder, KS, Clark, LN, Przedborski, SE, Finkbeiner, S, Rothstein, JD, Wszolek, ZK, Rossor, MN, Hardy, J, Gusella, JF, MacDonald, ME, Wheeler, VC, Ross, CA, Akimov, S, Arjomand, J, Thompson, LM, King, A, Hermanowicz, N, Winokur, S, Svendsen, CN, Mattis, V, Onorati, M, Cattaneo, E, Allen, ND, Kemp, PJ, Kim, KS, Przedborski, S, Feng, J, Lee, VMY, Trojanowski, JQ, James Surmeier, D, Henderson, CE, Maniatis, T, Eggan, K & Cudowicz, ME 2012, 'Creation of an open-access, mutation-defined fibroblast resource for neurological disease research', PLoS One, vol. 7, no. 8, e43099. https://doi.org/10.1371/journal.pone.0043099
Wray, Selina ; Self, Matthew ; Lewis, Patrick A. ; Taanman, Jan Willem ; Ryan, Natalie S. ; Mahoney, Colin J. ; Liang, Yuying ; Devine, Michael J. ; Sheerin, Una Marie ; Houlden, Henry ; Morris, Huw R. ; Healy, Daniel ; Marti-Masso, Jose Felix ; Preza, Elisavet ; Barker, Suzanne ; Sutherland, Margaret ; Corriveau, Roderick A. ; D'Andrea, Michael ; Schapira, Anthony H V ; Uitti, Ryan J. ; Guttman, Mark ; Opala, Grzegorz ; Jasinska-Myga, Barbara ; Puschmann, Andreas ; Nilsson, Christer ; Espay, Alberto J. ; Slawek, Jaroslaw ; Gutmann, Ludwig ; Boeve, Bradley F ; Boylan, Kevin ; Jon Stoessl, A. ; Ross, Owen A ; Maragakis, Nicholas J. ; Van Gerpen, Jay A ; Gerstenhaber, Melissa ; Gwinn, Katrina ; Dawson, Ted M. ; Isacson, Ole ; Marder, Karen S. ; Clark, Lorraine N. ; Przedborski, Serge E. ; Finkbeiner, Steven ; Rothstein, Jeffrey D. ; Wszolek, Zbigniew K ; Rossor, Martin N. ; Hardy, John ; Gusella, James F. ; MacDonald, Marcy E. ; Wheeler, Vanessa C. ; Ross, Christopher A. ; Akimov, Sergey ; Arjomand, Jamshid ; Thompson, Leslie M. ; King, Alvin ; Hermanowicz, Neal ; Winokur, Sara ; Svendsen, Clive N. ; Mattis, Virginia ; Onorati, Marco ; Cattaneo, Elena ; Allen, Nicholas D. ; Kemp, Paul J. ; Kim, Kwang Soo ; Przedborski, Serge ; Feng, Jian ; Lee, Virginia M Y ; Trojanowski, John Q. ; James Surmeier, D. ; Henderson, Christopher E. ; Maniatis, Tom ; Eggan, Kevin ; Cudowicz, Merit E. / Creation of an open-access, mutation-defined fibroblast resource for neurological disease research. In: PLoS One. 2012 ; Vol. 7, No. 8.
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AU - Mahoney, Colin J.

AU - Liang, Yuying

AU - Devine, Michael J.

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