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Accession IconSRP069217

Capturing the biology of mild versus severe disease in a pluripotent stem cell-based model of Familial Dysautonomia

Organism Icon Homo sapiens
Sample Icon 16 Downloadable Samples
Technology Badge IconIllumina HiSeq 2500

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Description
Familial Dysautonomia is a genetic disease, however patietns with the same genotype present with mild or severe forms of the disease. We used the pluripotent stem cell technology to capture the differences in disease severity in vitro during neurodevelopment as well as during maintanance of the cells, showing developmental and degenerative phenotypes. RNA seq. analysis of the groups confirmed those diffferences. Overall design: Analysis of RNA from PSC-derived neural crest cells from severe FD, mild FD and healthy patients
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16
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