Generation of two induced pluripotent stem cell lines from patients carrying heterozygous PTEN mutations associated with PTEN Hamartoma Tumor Syndrome
Summary
PTEN Hamartoma Tumor Syndrome (PHTS) is an inherited condition caused by germline mutations in PTEN, characterized by abnormal development and an elevated cancer risk driven by altered PI3K-AKT signaling. To model this disease in vitro, we derived human induced pluripotent stem cell (iPSC) lines SCVIi142-A and SCVIi143-A from two male donors clinically diagnosed with PHTS carrying heterozygous PTEN mutations. Both lines displayed undifferentiated iPSC morphology, robust expression of undifferentiated iPSC state markers, trilineage differentiation capacity, normal karyotypes, and validated PTEN variants. These iPSC lines provide a patient-specific platform for studying PTEN-associated developmental and signaling abnormalities. Copyright © 2026. Published by Elsevier B.V.
| Authors | Zdantsevich K, Tan R, Li D, Walther P, Ladabaum U, Wu JC |
|---|---|
| Journal | Stem cell research |
| Publication Date | 2026 Apr 21;94:104000 |
| PubMed | 42086021 |
| DOI | 10.1016/j.scr.2026.104000 |