Beals syndrome (congenital contracture spider-like fingers) is an extremely rare condition with clinical symptoms similar to those of Marfan syndrome, with skeletal abnormalities and enlarged aorta. Compared to Marfan syndrome, Beals syndrome is more likely to cause fetal heart enlargement and heart failure. Beals syndrome is also characterized by multiple flexion contractures, wrinkled ears, subarachnoiditis, contractures and scoliosis. The establishment of iPS cell (induced Pluripotent Stem Cells) models derived from patients with Beals syndrome not only preserves a valuable clinical resource, but also provides an in vitro cell model for the study of the disease mechanism of Beals syndrome.

Recently, Dr. Buqing Ni's team from the Department of Cardiac Surgery, Jiangsu Provincial People's Hospital, in collaboration with Help Therapeutics, published a paper in Stem Cell Research, "Establishment of a Beals syndrome patient-derived human induced pluripotent stem cell line HELPi001-A", which is the first iPS cell line established using somatic cells derived from patients with Beals syndrome. Downstream, the functional characterization of the iPS cell line showed that the iPS cell line has the potential to differentiate towards smooth muscle and cardiomyocytes.

1. Patients exhibit typical symptoms of Beals syndrome, funnel chest cavity and scoliosis

2. Gene sequencing and locus validation

3. Identification and functional validation of iPS cell lines

The establishment of iPS cell models for genetic diseases can be used not only for the study of molecular mechanisms and pathogenesis of diseases, but also for target screening of new drug candidates, pharmacodynamic and toxicological testing of drugs, as well as 3D printing and organ chips. iPS cell technology has broken the dependence on embryonic-derived stem cells in the field of stem cell research, and has provided important theoretical support and technical support for the induction of disease-specific stem cells and regenerative medicine. The establishment of iPS cell technology has broken the reliance on embryonic-derived stem cells in the field of stem cell research and provided important theoretical support and technical assurance for disease-specific stem cell induction and regenerative medicine.