154
Participants
Start Date
October 8, 2019
Primary Completion Date
October 31, 2025
Study Completion Date
October 31, 2025
skin biopsy for the primary fibroblast culture and a 15 ml blood sample (3 unnamed samples of 5ml) in each of the 4 SRT patients included.
Performed with a 3 mm diameter punch under local anesthesia. The procedure can be done in a consultation office respecting a strict asepsis.
Generation of Induced Pluripotent Stem Cells (iPSC) from fibroblasts obtained by skin biopsy
induced Pluripotent Stem Cells (iPSC) production of patients with CREBBP mutation and differentiation into cortical neurons and pyramidal neurons
Histone acetylation profiles of cells of SRT patients with CREBBP mutations
Study of acetylome by liquid chromatography coupled with tandem mass spectrometry (LC-MS / MS) Validation of specific acetylation targets by ChIP-Sequencing
Functional involvement of identified epigenetic alterations
Transcriptome analysis with RNA-Seq Generation of isogenic iPSC clones by correction of CREBBP mutations in SRT patients by CrispR-Cas9.
Culture of lymphoblastoid line from blood sample
Achievement of a ficoll Culture of lymphoblasts and conservation Establishment of lymphoblastoid line and conservation
RECRUITING
Centre Hospitalier Universitaire de Bordeaux, Talence
University Hospital, Bordeaux
OTHER