Induced pluripotent stem cell lines from individuals with craniosynostosis (iPSC-CRS)

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.

Principal Investigator

Prof Andrew Wilkie

Contact us

Email: childrensresearch@ouh.nhs.uk

IRAS number

292461