Mitochondrial membrane Protein-Associated Neurodegeneration (MPAN) is a lethal neurodegenerative disorder caused by mutations in the human gene C19orf12. The molecular mechanisms underlying the disorder are still unclear, and no established therapy is available. Here, we describe the generation and characterization of two human induced pluripotent stem cell (iPSC) lines derived from skin fibroblasts of two MPAN patients carrying homozygous recessive mutations in C19orf12. These iPSC lines represent a useful resource for future investigations on the pathology of MPAN, as well as for the development of successful treatments.

Generation of two human iPSC lines, HMGUi004-A and FINCBi004-A, from fibroblasts of MPAN patients carrying pathogenic recessive mutations in the gene C19orf12 / E. Zanuttigh, E. Rusha, C. Peron, D. Brunetti, G. Zorzi, A. Pertek, P. Nteli, J. Winkelmann, V. Tiranti, A. Iuso. - In: STEM CELL RESEARCH. - ISSN 1873-5061. - 72:(2023), pp. 103197.1-103197.5. [10.1016/j.scr.2023.103197]

Generation of two human iPSC lines, HMGUi004-A and FINCBi004-A, from fibroblasts of MPAN patients carrying pathogenic recessive mutations in the gene C19orf12

D. Brunetti;
2023

Abstract

Mitochondrial membrane Protein-Associated Neurodegeneration (MPAN) is a lethal neurodegenerative disorder caused by mutations in the human gene C19orf12. The molecular mechanisms underlying the disorder are still unclear, and no established therapy is available. Here, we describe the generation and characterization of two human induced pluripotent stem cell (iPSC) lines derived from skin fibroblasts of two MPAN patients carrying homozygous recessive mutations in C19orf12. These iPSC lines represent a useful resource for future investigations on the pathology of MPAN, as well as for the development of successful treatments.
Settore MED/50 - Scienze Tecniche Mediche Applicate
Settore BIO/14 - Farmacologia
2023
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/2434/1031729
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