Generation of three lines from multiorgan venous and lymphatic defect syndrome patients
Summary
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. Copyright © 2022 The Authors. Published by Elsevier B.V. All rights reserved.
| Authors | Hu X, Mao J, Zhang K, Zhang H, Li D, Zhou B, Shan H, Li B, Pang P |
|---|---|
| Journal | Stem cell research |
| Publication Date | 2022 Apr;60:102679 |
| PubMed | 35091306 |
| DOI | 10.1016/j.scr.2022.102679 |