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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 and Houlden, Henry , et al. (2012) In PLoS ONE 7(8).
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... (More)
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. (Less)
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organization
publishing date
type
Contribution to journal
publication status
published
subject
in
PLoS ONE
volume
7
issue
8
publisher
Public Library of Science (PLoS)
external identifiers
  • wos:000308044800019
  • scopus:84865409773
  • pmid:22952635
ISSN
1932-6203
DOI
10.1371/journal.pone.0043099
language
English
LU publication?
yes
additional info
The information about affiliations in this record was updated in December 2015. The record was previously connected to the following departments: Department of Psychogeriatrics (013304000), Division IV (013230800)
id
4665e44d-6196-47f9-a47a-7cd7820ab69e (old id 3147136)
date added to LUP
2016-04-01 13:37:17
date last changed
2025-04-04 14:19:22
@article{4665e44d-6196-47f9-a47a-7cd7820ab69e,
  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       = {{Wray, Selina and Self, Matthew and Lewis, Patrick A. and Taanman, Jan-Willem and Ryan, Natalie S. and Mahoney, Colin J. and Liang, Yuying and Devine, Michael J. and Sheerin, Una-Marie and Houlden, Henry and Morris, Huw R. and Healy, Daniel and Marti-Masso, Jose-Felix and Preza, Elisavet and Barker, Suzanne and Sutherland, Margaret and Corriveau, Roderick A. and D'Andrea, Michael and Schapira, Anthony H. V. and Uitti, Ryan J. and Guttman, Mark and Opala, Grzegorz and Jasinska-Myga, Barbara and Puschmann, Andreas and Nilsson, Christer and Espay, Alberto J. and Slawek, Jaroslaw and Gutmann, Ludwig and Boeve, Bradley F. and Boylan, Kevin and Stoessl, A. Jon and Ross, Owen A. and Maragakis, Nicholas J. and Van Gerpen, Jay and Gerstenhaber, Melissa and Gwinn, Katrina and Dawson, Ted M. and Isacson, Ole and Marder, Karen S. and Clark, Lorraine N. and Przedborski, Serge E. and Finkbeiner, Steven and Rothstein, Jeffrey D. and Wszolek, Zbigniew K. and Rossor, Martin N. and Hardy, John}},
  issn         = {{1932-6203}},
  language     = {{eng}},
  number       = {{8}},
  publisher    = {{Public Library of Science (PLoS)}},
  series       = {{PLoS ONE}},
  title        = {{Creation of an Open-Access, Mutation-Defined Fibroblast Resource for Neurological Disease Research}},
  url          = {{https://lup.lub.lu.se/search/files/3483059/3217131.pdf}},
  doi          = {{10.1371/journal.pone.0043099}},
  volume       = {{7}},
  year         = {{2012}},
}