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- Study Description
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Important Links and Information
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- Instructions for requestors
- Data Use Certification (DUC) Agreement
- Talking Glossary of Genetic Terms
The NeuroLINCS Center is part of the NIH Common Fund's Library of Integrated Network-based Cellular Signatures (LINCS) program, which aims to characterize how a variety of human cells, tissues and the entire organism respond to perturbations by drugs and other molecular factors.
As Part of the LINCS program, the NeuroLINCS study concentrates on human brain cells, which are far less understood than other cells in the body. Our initial focus is to produce diseased motor neurons from patients by utilizing high-quality induced pluripotent stem cell (iPSC) lines from Amyotrophic Lateral Sclerosis (ALS) and Spinal Muscular Atrophy (SMA) patients in addition to unaffected normal healthy controls. Using state-of-the-art OMICS methods (genomics, epigenomics, transcriptomics, and proteomics), we intend to create a wealth of cellular data that is patient-specific in the context of their baseline genetic perturbations and in the presence of other genetic and environmental perturbagens (e.g. endoplasmic reticulum stress). The primary data will be used to build cell signatures that convey the key features that distinguish the state of a cell and determine its behavior. Ultimately, the analysis of these datasets will lead to the identification of a network of unique signatures relevant to each of these motor neuron diseases. The datasets represented in this study are generated from assays interrogating RNA expression (RNA-seq), chromatin accessibility (ATAC-seq) and whole genome sequencing.
- Study Weblinks:
- Study Design:
- Case-Control
- Study Type:
- Case-Control
- dbGaP estimated ancestry using GRAF-pop
- Total number of consented subjects: 20
- Subject Sample Telemetry Report (SSTR)
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- Authorized Access
- Publicly Available Data
- Link to other NCBI resources related to this study
- Study Inclusion/Exclusion Criteria
Case samples were included if clinical history description included ALS (C9, SOD1 or sporadic) or SMA (SMN 1 deletion) diagnosis. Control cohort had no history of ALS or SMA phenotype.
- Molecular Data
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Type Source Platform Number of Oligos/SNPs SNP Batch Id Comment RNA Sequencing Illumina HiSeq 2500 N/A N/A RNA Sequencing Illumina HiSeq 4000 N/A N/A Whole Genome Sequencing Illumina HiSeq X N/A N/A New York Genome Center ATAC Sequencing Illumina HiSeq 2000 N/A N/A - Selected Publications
- Diseases/Traits Related to Study (MeSH terms)
- Links to Related Genes
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- Study Attribution
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Principal Investigators
- Leslie Thompson, PhD. University of California, Irvine, CA, USA.
- Clive Svendsen, PhD. Regenerative Medicine Institute, Cedars Sinai, Los Angeles, CA, USA.
- Steve Finkbeiner, MD, PhD. Gladstone Institutes, San Francisco, CA, USA.
- Ernest Fraenkel, PhD. Massachusetts Institute of Technology, Cambridge, MA, USA.
- Jeff Rothstein, MD, PhD. Johns Hopkins School of Medicine, Baltimore, MD, USA.
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Co-Investigator
- Jennifer Van Eyk, PhD. Women's Heart Center, Cedars Sinai, Los Angeles, CA, USA.
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Funding Source
- NS091046 (NIH U54). National Institute of Neurological Disorders and Stroke (NINDS), National Institutes of Health, Bethesda, MD, USA.
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Principal Investigators