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.
Zdantsevich et al. (Wed,) studied this question.