TBX4Life iPSC Biorepository

Welcome to the TBX4Life iPSC Biorepository.

The TBX4 Syndrome is a rare genetic disorder caused by mutations in the TBX4 gene, which affects children and infants presenting as: diffuse lung disease, pulmonary hypertension, and/or skeletal anomalies. The diffuse lung disease is considered a suybtype of the interstitial lung diseases of childhood (chILD). To facilitate international research efforts to better understand and treat, this currently incurable genetic disease, the TBX4Life iPSC Biorepository was launched in 2025

For more information about the disease, clinical care for those affected and their families, or for more information on the latest research related to this disorder, please refer to the TBX4Life website:

Through our iPSC catalogue you can access induced pluripotent stem cell (iPSC) lines generated by reprogramming somatic cells (blood or fibroblasts) procured with informed consent from patients or their families who have TBX4 Syndrome. The resulting stem cell lines are archived as frozen, shareable vials housed in our Center for Regenerative Medicine at Boston University and Boston Medical Center. Please access the searchable catalogue of these lines at this link, where information on how to request the lines from our iPSC Core facility is also detailed.

When you click on the above link, you will be taken to a searchable catalogue; try typing in the gene name TBX4 to see a list of cell lines carrying either TBX4 mutations or TBX4 reporters. If you are interested in other mutations associated with pediatric lung diseases, please refer to our chILD Biorepository here.

The TBX4 iPSC Biorepository was launched in collaboration with TBX4Life.  We thank TBX4Life for support, and the NIH/NHLBI for an N01 resource sharing grant that made the launch of this bank possible. We are particularly grateful to the volunteers, patients, and their family members who donated samples to the repository. We also thank our many physician-scientist collaborators and research leaders from across the country who contributed to and supported this bank, especially Anton Morkin (TBX4Life), Drs. Eric Austin (Vanderbilt), Jeffrey Whitsett (Cincinnati Children’s), Kathryn Wikenheiser-Brokamp (Cincinnati Children’s), Matthias Griese (CCRC Hauner, Germany),  Deterding (U. Colorado), Wambach and Cole (Washington U. St. Louis), Casey and Fishman (Boston Children’s Hospital), Rabinovitch (Stanford), and Nogee (Johns Hopkins).