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Capturing the Biology of Mild Versus Severe Disease in a Pluripotent Stem Cell-Based Model of Familial Dysautonomia

ABSTRACT: Capturing the Biology of Mild Versus Severe Disease in a Pluripotent Stem Cell-Based Model of Familial Dysautonomia

PROVIDER: PRJNA350186 | ENA |

REPOSITORIES: ENA

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

Project 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.

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Project description:Human olfactory ecto-mesenchymal stem cells (hOE-MSCs) from controls and familial dysautonomia (FD) patients were cultured in either sphere-forming conditions (ITS + EGF + bFGF) or in the presence of retinoic acid, forskolin and Sonic Hedgehog (rafnshh) for 7 days to induce neuroglial differentiation and were also treated or not with kinetin (100 mM for 48h) which corrects the aberrant splicing of IKBKAP mRNA. We used the recently described model of human olfactory ecto-mesenchymal stem cells to identify genes differentially expressed between controls and familial dysautonomia patients, and also the genes sensitive to kinetin which corrects aberrant splicing of IKBKAP mRNA

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