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Creation of an Open-Access, Mutation-Defined Fibroblast Resource for Neurological Disease Research
- Source :
- PLoS ONE, PLoS ONE; 7(8) (2012), PloS one, vol 7, iss 8, PLoS ONE, Vol 7, Iss 8, p e43099 (2012)
- Publication Year :
- 2012
- Publisher :
- Public Library of Science (PLoS), 2012.
-
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.
- Subjects :
- Neurology
Databases, Factual
Biopsy
Cellular differentiation
lcsh:Medicine
Disease
Bioinformatics
Motor Neuron Diseases
0302 clinical medicine
Models
Neurobiology of Disease and Regeneration
2.1 Biological and endogenous factors
Aetiology
lcsh:Science
NINDS ALS iPSC Consortium
Induced pluripotent stem cell
Psychiatry
0303 health sciences
Multidisciplinary
Stem Cell Research - Induced Pluripotent Stem Cell - Human
Molecular pathology
Parkinson Disease
Cell Differentiation
Medical research
Immunohistochemistry
3. Good health
NINDS Parkinson's Disease iPSC Consortium
Autosomal Dominant
Neurological
Medicine
Medical genetics
Alzheimer's disease
Research Article
medicine.medical_specialty
General Science & Technology
Induced Pluripotent Stem Cells
Tissue Banks
Cell Line
Access to Information
Databases
03 medical and health sciences
Genetic
Alzheimer Disease
Genetics
medicine
Humans
QH426
Biology
Factual
Cell Proliferation
030304 developmental biology
Clinical Genetics
Stem Cell Research - Induced Pluripotent Stem Cell
Models, Genetic
business.industry
lcsh:R
Neurosciences
Fibroblasts
Stem Cell Research
medicine.disease
R1
Brain Disorders
NINDS Huntington's Disease iPSC Consortium
Geriatrics
Mutation
lcsh:Q
Dementia
Generic health relevance
Molecular Neuroscience
Nervous System Diseases
business
2.6 Resources and infrastructure (aetiology)
030217 neurology & neurosurgery
Neuroscience
Subjects
Details
- ISSN :
- 19326203
- Volume :
- 7
- Database :
- OpenAIRE
- Journal :
- PLoS ONE
- Accession number :
- edsair.doi.dedup.....1ef4f7905f8befb9db610c07e2a2c425
- Full Text :
- https://doi.org/10.1371/journal.pone.0043099