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Role of ACTG2 Variants in Smooth Muscle Determination and Function in Pediatric Intestinal Pseudo-obstruction.
Sponsor: University Hospital, Grenoble
Summary
The primary objective of this study is to describe the transcriptional impact of R178, R257, R40 or A136 variants of the ACTG2 gene on iPS differentiation mechanisms up to organoids derived from PIPO patient samples versus those derived from control / WT patients (generation of IPS from cultured cell lines), at different stages of their experimental ex vivo development.
Key Details
Gender
All
Age Range
4 Years - Any
Study Type
INTERVENTIONAL
Enrollment
4
Start Date
2025-02
Completion Date
2030-11
Last Updated
2025-01-22
Healthy Volunteers
No
Conditions
Interventions
Biopsy
A skin biopsy and a blood sample will be taken to culture the iPS cells and intestinal organoids.
Locations (3)
Phymedexp Inserm U1046 - Cnrs Umr 9214
Montpellier, France
Tens - Inserm Un Umr 1235
Nantes, France
AP-HP Hôpital Robert Debré
Paris, France