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BRIEF RESEARCH REPORT article
Front. Cell Dev. Biol.
Sec. Stem Cell Research
Volume 13 - 2025 | doi: 10.3389/fcell.2025.1516669
Using a Brain-like Endothelial Cell Differentiation to Characterize the CS79iBRCA-n2 BRCA1 Mutated Patient Derived Stem Cell Line
Provisionally accepted
Natalie G Alexander1
Kylie A Buchanan1
Alexandra E Meyer1
Lauren M Mitterway1
Caroline O Vanderburgh1
Shreyas S. Rao2
Brandon J Kim1*- 1Department of Biological Sciences, University of Alabama, Tuscaloosa, United States
- 2Department of Chemical and Biological Engineering, University of Alabama, Tuscaloosa, United States
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BRCA1/2 genes are considered tumor suppressor genes and help repair damaged DNA. Pathogenic germline mutations of BRCA1/2 genes are the most common hereditary cause of breast cancer and ovarian cancer. It has been established that BRCA1 mutations increase the risk of brain metastasis compared to the BRCA1 wildtype, and once metastasis occurs to the brain the disease is considered uncurable. The blood-brain barrier (BBB) is essential for maintaining and regulating homeostasis of the central nervous system and is composed of highly specialized brain endothelial cells. Using a human induced pluripotent stem cell (hiPSC) based model, we characterized an hiPSC line from an invasive cancer patient harboring a BRCA1 mutation. This patient-derived hiPSC line can be utilized to study BBB properties as after differentiation into brain-like endothelial cells (BECs), BECs derived from this line express BBB markers such as tight junction proteins, and functional efflux transporters. Future application of patient-derived stem cell models could provide a platform to discover genetic predispositions to BBB disruption in individuals with BRCA1 mutations, as well as the potential molecular mechanisms contributing to brain metastasis.
Keywords: Blood-Brain Barrier, patient derived stem cells, BRCA1 mutation, Brain endothelial cells, Induced Pluripotent Stem Cells, disease modeling
Received: 24 Oct 2024; Accepted: 11 Apr 2025.
Copyright: © 2025 Alexander, Buchanan, Meyer, Mitterway, Vanderburgh, Rao and Kim. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
* Correspondence: Brandon J Kim, Department of Biological Sciences, University of Alabama, Tuscaloosa, United States
Disclaimer: All claims expressed in this article are solely those of the authors and do not necessarily represent those of their affiliated organizations, or those of the publisher, the editors and the reviewers. Any product that may be evaluated in this article or claim that may be made by its manufacturer is not guaranteed or endorsed by the publisher.