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

Xiaojun Hu; Junjie Mao; Ke Zhang; Huitao Zhang; Dan Li; Bin Zhou; Hong Shan; Bing Li; Pengfei Pang

doi:10.1016/j.scr.2022.102679

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

Stem Cell Res. 2022 Apr:60:102679. doi: 10.1016/j.scr.2022.102679. Epub 2022 Jan 19.

Authors

Xiaojun Hu¹, Junjie Mao², Ke Zhang², Huitao Zhang³, Dan Li⁴, Bin Zhou², Hong Shan², Bing Li⁵, Pengfei Pang²

Affiliations

¹ Center for Interventional Medicine, The Fifth Affiliated Hospital, Sun Yat-sen University, Zhuhai, Guangdong Province 519000, China; Guangdong Provincial Key Laboratory of Biomedical Imaging, The Fifth Affiliated Hospital, Sun Yat-sen University, Zhuhai, Guangdong Province 519000, China; Guangdong Provincial Engineering Research Center of Molecular Imaging, The Fifth Affiliated Hospital, Sun Yat-sen University, Zhuhai, Guangdong Province 519000, China. Electronic address: [email protected].
² Center for Interventional Medicine, The Fifth Affiliated Hospital, Sun Yat-sen University, Zhuhai, Guangdong Province 519000, China; Guangdong Provincial Key Laboratory of Biomedical Imaging, The Fifth Affiliated Hospital, Sun Yat-sen University, Zhuhai, Guangdong Province 519000, China; Guangdong Provincial Engineering Research Center of Molecular Imaging, The Fifth Affiliated Hospital, Sun Yat-sen University, Zhuhai, Guangdong Province 519000, China.
³ Department of Intensive Care Unit, The Fifth Affiliated Hospital, Sun Yat-sen University, Zhuhai, Guangdong Province 519000, China.
⁴ Guangdong Provincial Key Laboratory of Biomedical Imaging, The Fifth Affiliated Hospital, Sun Yat-sen University, Zhuhai, Guangdong Province 519000, China; Guangdong Provincial Engineering Research Center of Molecular Imaging, The Fifth Affiliated Hospital, Sun Yat-sen University, Zhuhai, Guangdong Province 519000, China.
⁵ Department of Ophthalmology, The Fifth Affiliated Hospital, Sun Yat-sen University, Zhuhai, Guangdong Province 519000, China.

PMID: 35091306
DOI: 10.1016/j.scr.2022.102679

Abstract

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.

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Cell Differentiation
DEAD-box RNA Helicases / genetics
DEAD-box RNA Helicases / metabolism
Fibroblasts / metabolism
Humans
Induced Pluripotent Stem Cells* / metabolism
Mutation
Syndrome

Substances

DDX24 protein, human
DEAD-box RNA Helicases