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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. 72:103197 (2023)
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.
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1.200
0.465
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Publication type
Article: Journal article
Document type
Scientific Article
Language
english
Publication Year
2023
HGF-reported in Year
2023
ISSN (print) / ISBN
1873-5061
e-ISSN
1876-7753
Journal
Stem Cell Research
Quellenangaben
Volume: 72,
Article Number: 103197
Publisher
Elsevier
Publishing Place
Radarweg 29, 1043 Nx Amsterdam, Netherlands
Reviewing status
Peer reviewed
Institute(s)
Institute of Neurogenomics (ING)
POF-Topic(s)
30205 - Bioengineering and Digital Health
Research field(s)
Genetics and Epidemiology
PSP Element(s)
G-503200-001
G-503292-001
G-503292-001
Grants
NBIA Suisse
WOS ID
001118630200001
Scopus ID
85171690973
PubMed ID
37689041
Erfassungsdatum
2023-10-18