MADISON, WI – June 1st – WiCell, an organization dedicated to supporting research and advancing novel therapies through innovative technologies and services, has expanded its stem cell collection with a new set of patient-derived induced pluripotent stem cell (iPSC) lines for studying PTEN hamartoma tumor syndrome (PHTS), a genetic disorder caused by pathogenic variants in the PTEN (phosphatase and tensin homolog) gene. PTEN is a key regulator of the PI3K/AKT/mTOR signaling pathway, which controls cellular growth, survival, and metabolism.
PHTS is associated with an increased risk of multiple cancers, including breast, thyroid, and endometrial cancers, as well as a range of clinical manifestations such as macrocephaly, neurodevelopmental differences, vascular anomalies, gastrointestinal polyps, and hamartomas. Although once considered rare, recent genomic studies estimate pathogenic PTEN variants may occur in approximately 1 in 9,000 to 1 in 13,000 individuals, suggesting the condition may be more prevalent than previously recognized.
The cell lines were deposited by Professor Mustafa Sahin and Dr. Elizabeth Buttermore at the Human Neuron Core in the Rosamund Stone Zander and Hansjörg Wyss Translational Neuroscience Center at Boston Children’s Hospital in Boston, Massachusetts, with funding from PTEN Research.
The collection includes iPSCs generated from fibroblasts or peripheral blood mononuclear cells from IRB-consented donors carrying heterozygous PTEN variants, reprogrammed using Sendai virus–based methods. It also includes isogenic pairs and a CRISPR/Cas9-engineered allelic series, including lines with corrected variants (restoring wild-type expression) and lines in which the variant was introduced into healthy control lines to engineer homozygous expression. Together, these models enable systematic investigation of how PTEN variants influence cellular signaling and disease mechanisms.
“Making disease-relevant iPSC lines broadly available to the global research community helps researchers better understand genetic disease mechanisms and accelerates the discovery and development of new therapies for diseases like PHTS,” said Tenneille Ludwig, PhD, Chief Scientific Officer at WiCell.
Explore the new collection here: https://www.wicell.org/product-category/collection/pten-hamartoma-tumor-syndrome-phts-collection/
About WiCell (wicell.org)
Headquartered in Madison, Wisconsin, WiCell is a supporting organization of the University of Wisconsin–Madison, a world leader in the area of human pluripotent stem cell research. Established in 1999 to advance stem cell technologies, our mission extends beyond providing high-quality stem cell lines and characterization services. We are dedicated to advancing regenerative medicine and cell and gene therapy globally. Through promoting best practices in cell banking and characterization, we aim to support groundbreaking research and clinical applications. Our efforts—rooted in a commitment to quality, innovation, and collaboration—underscore our desire to support the scientific community as your lab partner.