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

Autor: Iris Fischer, Judit Küchler, Claudia Schaar, Tanja Fisch, Janine Cernoch, Kristin Fischer, Valeria Fernández Vallone, Peter Kühnen, Harald Stachelscheid
Jazyk: angličtina
Rok vydání: 2021
Předmět:
Zdroj: Stem Cell Research, Vol 54, Iss , Pp 102417- (2021)
Druh dokumentu: article
ISSN: 1873-5061
DOI: 10.1016/j.scr.2021.102417
Popis: 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.
Databáze: Directory of Open Access Journals