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. Uitti; Mark 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 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

doi:10.1371/journal.pone.0043099

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 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

School of Medicine

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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 language	English (US)
Article number	e43099
Journal	PloS one
Volume	7
Issue number	8
DOIs	https://doi.org/10.1371/journal.pone.0043099
State	Published - Aug 27 2012

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Wray, S., Self, M., Lewis, P. A., Taanman, J. W., Ryan, N. S., Mahoney, C. J., Liang, Y., Devine, M. J., Sheerin, U. M., Houlden, H., Morris, H. R., Healy, D., Marti-Masso, J. F., Preza, E., Barker, S., Sutherland, M., Corriveau, R. A., D'Andrea, M., Schapira, A. H. V., ... Cudowicz, M. E. (2012). Creation of an open-access, mutation-defined fibroblast resource for neurological disease research. PloS one, 7(8), Article e43099. https://doi.org/10.1371/journal.pone.0043099

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, J, 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

@article{5eeb6fa377144a48b3d402ae59cd8d07,

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

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.",

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

year = "2012",

month = aug,

day = "27",

doi = "10.1371/journal.pone.0043099",

language = "English (US)",

volume = "7",

journal = "PloS one",

issn = "1932-6203",

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T1 - Creation of an open-access, mutation-defined fibroblast resource for neurological disease research

AU - Wray, Selina

AU - Self, Matthew

AU - Lewis, Patrick A.

AU - Taanman, Jan Willem

AU - Ryan, Natalie S.

AU - Mahoney, Colin J.

AU - Liang, Yuying

AU - Devine, Michael J.

AU - Sheerin, Una Marie

AU - Houlden, Henry

AU - Morris, Huw R.

AU - Healy, Daniel

AU - Marti-Masso, Jose Felix

AU - Preza, Elisavet

AU - Barker, Suzanne

AU - Sutherland, Margaret

AU - Corriveau, Roderick A.

AU - D'Andrea, Michael

AU - Schapira, Anthony H.V.

AU - Uitti, Ryan J.

AU - Guttman, Mark

AU - Opala, Grzegorz

AU - Jasinska-Myga, Barbara

AU - Puschmann, Andreas

AU - Nilsson, Christer

AU - Espay, Alberto J.

AU - Slawek, Jaroslaw

AU - Gutmann, Ludwig

AU - Boeve, Bradley F.

AU - Boylan, Kevin

AU - Jon Stoessl, A.

AU - Ross, Owen A.

AU - Maragakis, Nicholas J.

AU - Van Gerpen, Jay

AU - Gerstenhaber, Melissa

AU - Gwinn, Katrina

AU - Dawson, Ted M.

AU - Isacson, Ole

AU - Marder, Karen S.

AU - Clark, Lorraine N.

AU - Przedborski, Serge E.

AU - Finkbeiner, Steven

AU - Rothstein, Jeffrey D.

AU - Wszolek, Zbigniew K.

AU - Rossor, Martin N.

AU - Hardy, John

AU - Gusella, James F.

AU - MacDonald, Marcy E.

AU - Wheeler, Vanessa C.

AU - Ross, Christopher A.

AU - Akimov, Sergey

AU - Arjomand, Jamshid

AU - Thompson, Leslie M.

AU - King, Alvin

AU - Hermanowicz, Neal

AU - Winokur, Sara

AU - Svendsen, Clive N.

AU - Mattis, Virginia

AU - Onorati, Marco

AU - Cattaneo, Elena

AU - Allen, Nicholas D.

AU - Kemp, Paul J.

AU - Kim, Kwang Soo

AU - Przedborski, Serge

AU - Feng, Jian

AU - Lee, Virginia M.Y.

AU - Trojanowski, John Q.

AU - James Surmeier, D.

AU - Henderson, Christopher E.

AU - Maniatis, Tom

AU - Eggan, Kevin

AU - Cudowicz, Merit E.

PY - 2012/8/27

Y1 - 2012/8/27

N2 - 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.

AB - 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.

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JO - PloS one

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ER -

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

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