Department of Molecular Neuroscience, University College London Institute of Neurology, London, United Kingdom.
PLoS One. 2012;7(8):e43099. doi: 10.1371/journal.pone.0043099. Epub 2012 Aug 27.
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.
通过发现与这些疾病家族形式相关的基因突变，我们对许多神经疾病的分子机制的理解有了很大的提高。这些突变促进了细胞和动物模型的产生，可用于了解潜在的分子病理学。最近，由于诱导多能干细胞的发展及其随后分化为神经元和神经胶质细胞，人们对使用患者来源的细胞产生了浓厚的兴趣。对于许多希望开展这项研究的中心来说，获得携带相关突变的患者细胞系是一个限制因素。因此，我们从携带与神经疾病相关突变的患者中生成了一个开放获取的成纤维细胞系集合。这些细胞系已被存入科里尔研究所医学研究的国立神经病学和中风研究所（NINDS）库中，并可供任何研究小组请求用于体外疾病建模。目前，有 71 种突变定义的细胞系可从广泛的神经疾病中请求，并且该集合将不断扩大。这是一个重要的资源，将通过科学界推进将患者细胞作为疾病模型的使用。
