What question did this study set out to answer?

The study aims to derive induced pluripotent stem cells from patients with PTEN mutations linked to PTEN Hamartoma Tumor Syndrome.

April 23, 2026Stem Cell Research0 citationsOpen Access

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

KZKristina Zdantsevich RTRenke Tan DLD K Li

Key Points

The study aims to derive induced pluripotent stem cells from patients with PTEN mutations linked to PTEN Hamartoma Tumor Syndrome.
Derived iPSC lines from male donors with heterozygous PTEN mutations.
Examined iPSC morphology, marker expression, differentiation capacity, and PTEN variant validation.
Both iPSC lines showed undifferentiated morphology and strong expression of iPSC markers.
The lines have the capacity to differentiate into all three germ layers.
Karyotypes were normal and PTEN mutations were validated.

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.

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Cite This Study

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

synapsesocial.com/papers/69e9bb9e85696592c86ed401 https://doi.org/https://doi.org/10.1016/j.scr.2026.104000

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