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


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

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