Generation of two induced pluripotent stem cell lines from patients carrying heterozygous PTEN mutations associated with PTEN Hamartoma Tumor Syndrome

Stem Cell Research 2026 Open access

Read full text
Authors: Kristina Zdantsevich, Renke Tan, D K Li, Parker Walther, Uri Ladabaum, J Wu
DOI: 10.1016/j.scr.2026.104000
Cited by: 1
References: 11

Abstract

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.

Fields of Study & Subjects

PI3K/AKT/mTOR signaling in cancer Tuberous Sclerosis Complex Research Biological Research and Disease Studies

Publication details

Journal / source
Stem Cell Research
Publisher
Elsevier BV
Volume
94
Pages
104000–104000
Publication date
21 April 2026
Language
EN