iPSC-CRS v.1
Research type
Research Study
Full title
Induced pluripotent stem cell lines from individuals with craniosynostosis (iPSC-CRS)
IRAS ID
292461
Contact name
Andrew O. M. Wilkie
Contact email
Sponsor organisation
University of Oxford
Duration of Study in the UK
2 years, 8 months, 30 days
Research summary
The purpose of this work is to produce induced pluripotent stem cells (iPSC) to study rare, genetic forms of craniosynostosis (premature fusion of the cranial sutures of the skull). This would involve obtaining a single blood sample of not more than 24 ml. The purpose of this work is to produce cell types from the patient (such as neural crest cells and mesenchymal stem cells) that have properties that more closely mimic the cells of the cranial sutures than the types of cells that are more readily available (such as white blood cells and skin cells). The cells obtained will be studied using genetic analytical methods (such as measurements of gene expression) to determine how the underlying candidate mutation is affecting the cell's function. The ultimate purposes of this work are (1) to help achieve better, more accurate diagnoses (by providing additional evidence to support that a previously identified genetic change is causative of the disorder) and (2) to provide additional biological insight into the mechanisms by which craniosynostosis arises.
REC name
London - Riverside Research Ethics Committee
REC reference
21/LO/0574
Date of REC Opinion
28 Oct 2021
REC opinion
Further Information Favourable Opinion