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

Enrica Zanuttigh; Ejona Rusha; Camille Peron; Dario Brunetti; Giovanna Zorzi; Anna Pertek; Polyxeni Nteli; Juliane Winkelmann; Valeria Tiranti; Arcangela Iuso

doi: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

Stem Cell Res. 2023 Oct:72:103197. doi: 10.1016/j.scr.2023.103197. Epub 2023 Sep 1.

Authors

Affiliations

¹ Institute of Neurogenomics, Helmholtz Zentrum München, Neuherberg, Germany.
² iPSC Core Facility, Helmholtz Zentrum München, Neuherberg, Germany.
³ Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
⁴ Institute of Neurogenomics, Helmholtz Zentrum München, Neuherberg, Germany; Institute of Human Genetics, Technical University of Munich, Munich, Germany.
⁵ Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy. Electronic address: [email protected].
⁶ Institute of Neurogenomics, Helmholtz Zentrum München, Neuherberg, Germany; Institute of Human Genetics, Technical University of Munich, Munich, Germany. Electronic address: [email protected].

PMID: 37689041
DOI: 10.1016/j.scr.2023.103197

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.

MeSH terms

Fibroblasts
Humans
Induced Pluripotent Stem Cells*
Membrane Proteins / genetics
Mitochondrial Proteins / genetics
Mutation / genetics

Substances

Mitochondrial Proteins
Membrane Proteins
C19orf12 protein, human