Cell lines
PHTS induced pluripotent stem cells (iPSCs)
Induced pluripotent stem cells (iPSCs) derived from individuals with PHTS offer a valuable human cellular system for investigating the cellular consequences of PTEN dysfunction. With the capacity to be differentiated into multiple disease-relevant cell types with patient-specific genetic backgrounds, iPSCs are a particularly translatable model for understanding disease mechanisms and evaluating potential therapies.
Below, we have collated PHTS patient-derived iPSC lines that have been generated and utilised in studies funded by PTEN Research, alongside other lines developed within the wider research community.
Professor Mustafa Sahin together with Dr Elizabeth Buttermore at the Human Neuron Core in the Rosamund Stone Zander and Hansjoerg Wyss Translational Neuroscience Center (TNC) at Boston Children’s Hospital (US) has generated a collection of iPSCs reprogrammed from fibroblasts or peripheral blood mononuclear cells from IRB-consented donors carrying heterozygous PTEN variants. Clinical phenotyping was performed across the cohort.
This collection also includes isogenic pairs and genomic allelic series established using CRISPR/Cas gene editing to either correct a patient-specific variant to establish lines with homozygous wild-type PTEN expression or to introduce the variant to the healthy allele of the patient line to establish lines with homozygous PTEN variant expression.
These cells are available to qualified researchers through WiCell (link), a biorepository.
This project received funding from PTEN Research.