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

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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Publication Details

Journal
Stem Cell Research
Published
2026-04-21
DOI
https://doi.org/10.1016/j.scr.2026.104000
Primary Topic
PI3K/AKT/mTOR signaling in cancer
Type
article
Field-Weighted Citation Impact
0.00

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article

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

D K Li, J Wu, Kristina Zdantsevich, Uri Ladabaum et al.
Stem Cell Research
PI3K/AKT/mTOR signaling in cancer
article

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

D K Li, J Wu, Kristina Zdantsevich, Uri Ladabaum, Parker Walther, Renke Tan
article en

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.

Stem Cell ResearchVol. 94
Cardiovascular Institute of the South (US), Stanford Medicine (US), Stanford University (US)
National Heart, Lung, and Blood Institute
Good health and well-being
Openalex Percentile: Top 20%
PI3K/AKT/mTOR signaling in cancer
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Generation of two induced pluripotent stem cell lines from patients carrying heterozygous PTEN mutations associated with PTEN Hamartoma Tumor Syndrome — D K Li, J Wu, et al. · Stem Cell Research (2026) | TGRS Research Map | TGRS