Disease Severity in Familial Dysautonomia
UID: 11292
- Description
- Description from dbGaP:
"Familial Dysautonomia (FD) is a developmental and degenerative genetic disease that manifests in the neural crest cells and peripheral nervous system (PNS). Despite all FD patients having the same mutation in IKBKAP, patients present with varying disease severity, ranging from mild to severe. We used the human pluripotent stem cell technology to recapitulate this varying disease severity in the dish. Further, we found that severe, but not mild patients harbor mutations in candidate modifier genes that may contribute to severe disease presentation."
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Access via dbGaP
Accession #: phs001233.v1.p1 - Access Restrictions
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Application Required
- Access Instructions
- Full access to this dataset in dbGaP requires authorization through an Authorized Access Portal which can be requested for either 'data download' or 'view only'. Individual level data download requires a project request. With dbGaP DataBrowser approval, users may view the compilation of individual-level data of general research use. Upon approval, data can be downloaded. To view the data available with Authorized Access, click the link 'list of components' in the Authorized Access section. Upon approval, data can be downloaded.
Publicly available data such as data dictionaries, variable summaries, documents and truncated analysis are available the public download site FTP link. - Associated Publications
- Equipment Used
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Illumina TruSeq SBS Kit v3 - HS
- Dataset Format(s)
- PDF, XML, gzip, TXT
- Dataset Size
- 245.78 KB
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