Generation of three lines from multiorgan venous and lymphatic defect syndrome patients

[摘要] Multiorgan venous and lymphatic defect (MOVLD) syndrome is a unique visceral vascular malformations with complex etiologies. In this study, primary skin fibroblasts were obtained from three MOVLD patients and reprogrammed into iPSCs by Yamanaka’s classical strategy. The MOVLD- iPSCs carrying the DDX24 p.Glu271Lys mutation were confirmed by Sanger sequencing. The pluripotency of MOVLD-iPSCs was verified by the specific molecular markers and gene expression, trilineage differentiation potential. The establishment of the MOVLD-iPSCs will provide a useful model for understanding the mechanisms involved the MOVLD and promoting the development of medical treatment.

[学科分类] 生理学