Generation of iPSCs line from patient with Singleton-Merten syndrome.

Abstract

Singleton-Merten syndrome (SMS) is a rare genetic condition associated with abnormal calcification and skeletal anomalies. To explore the underlying mechanisms of this disorder, we generated induced pluripotent stem cells (iPSCs) from the blood cells of a patient with SMS. The iPSCs retain the genetic mutation linked to the syndrome, making them a relevant model for studying disease-specific processes. These cells display all key features of pluripotent stem cells, including the expression of characteristic markers, the ability to differentiate into cell types from all three germ layers, and stable growth during passaging. These iPSCs provide a valuable tool for investigating the processes involved in SMS, particularly those leading to abnormal calcification. They also offer a platform for testing potential therapeutic strategies aimed at addressing SMS-related complications. Future work will focus on directing these cells into specific cell types to better understand the pathways involved in the disease and identify possible treatment targets. This study highlights the potential of patient-derived iPSCs for advancing research into rare genetic disorders.