Generation of human induced pluripotent stem cell lines from 2 patients with MIRAGE syndrome


MIRAGE syndrome is a multisystem disorder caused by mutations in SAMD9 (sterile α motif domain-containing protein 9) with a high mortality in the first decade of life. We generated 2 human induced pluripotent stem cell lines from male children diagnosed with MIRAGE syndrome. The cell lines were generated from fibroblasts by integration-free reprogramming using the Sendai virus. Both cell lines were fully characterized regarding their pluripotent identity and differentiation potential, and quality controlled for karyotypic integrity, cell line identity and clearance of reprogramming vectors. The generated cell lines represent a valuable tool to study the disease mechanism of MIRAGE syndrome. Copyright © 2021 The Author(s). Published by Elsevier B.V. All rights reserved.

Authors Fischer I, Küchler J, Schaar C, Fisch T, Cernoch J, Fischer K, Fernández Vallone V, Kühnen P, Stachelscheid H
Journal Stem cell research
Publication Date 2021 Jul;54:102417
PubMed 34119956
DOI 10.1016/j.scr.2021.102417

Research Projects

Cell Lines