Generation of two human iPSC lines, HMGUi003-A and MRIi028-A, carrying pathogenic biallelic variants in the PPCS gene
Phosphopantothenoylcysteine synthetase (PPCS) catalyzes the second step of the de novo coenzyme A (CoA) synthesis starting from pantothenate. Mutations in PPCS cause autosomal-recessive dilated cardiomyopathy, often fatal, without apparent neurodegeneration, whereas pathogenic variants in PANK2 and...
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| Hauptverfasser: | , , , , , , , , , , , , |
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| Dokumenttyp: | Article (Journal) |
| Sprache: | Englisch |
| Veröffentlicht: |
May2022
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| In: |
Stem cell research
Year: 2022, Jahrgang: 61, Pages: 1-5 |
| ISSN: | 1876-7753 |
| DOI: | 10.1016/j.scr.2022.102773 |
| Online-Zugang: | Verlag, lizenzpflichtig, Volltext: https://doi.org/10.1016/j.scr.2022.102773 Verlag, lizenzpflichtig, Volltext: https://www.sciencedirect.com/science/article/pii/S1873506122001222 
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| Verfasserangaben: | Arcangela Iuso, Fangfang Zhang, Ejona Rusha, Birgit Campbell, Tatjana Dorn, Enrica Zanuttigh, Dorothea Haas, Yair Anikster, Gabriele Lederer, Anna Pertek, Polyxeni Nteli, Karl-Ludwig Laugwitz, Alessandra Moretti |
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| 245 | 1 | 0 | |a Generation of two human iPSC lines, HMGUi003-A and MRIi028-A, carrying pathogenic biallelic variants in the PPCS gene |c Arcangela Iuso, Fangfang Zhang, Ejona Rusha, Birgit Campbell, Tatjana Dorn, Enrica Zanuttigh, Dorothea Haas, Yair Anikster, Gabriele Lederer, Anna Pertek, Polyxeni Nteli, Karl-Ludwig Laugwitz, Alessandra Moretti |
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| 520 | |a Phosphopantothenoylcysteine synthetase (PPCS) catalyzes the second step of the de novo coenzyme A (CoA) synthesis starting from pantothenate. Mutations in PPCS cause autosomal-recessive dilated cardiomyopathy, often fatal, without apparent neurodegeneration, whereas pathogenic variants in PANK2 and COASY, two other genes involved in the CoA synthesis, cause Neurodegeneration with Brain Iron Accumulation (NBIA). PPCS-deficiency is a relatively new disease with unclear pathogenesis and no targeted therapy. Here, we report the generation of induced pluripotent stem cells from fibroblasts of two PPCS-deficient patients. These cellular models could represent a platform for pathophysiological studies and testing of therapeutic compounds for PPCS-deficiency. | ||
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| 700 | 1 | |a Rusha, Ejona |e VerfasserIn |4 aut | |
| 700 | 1 | |a Campbell, Birgit |e VerfasserIn |4 aut | |
| 700 | 1 | |a Dorn, Tatjana |e VerfasserIn |4 aut | |
| 700 | 1 | |a Zanuttigh, Enrica |e VerfasserIn |4 aut | |
| 700 | 1 | |a Haas, Dorothea |d 1965- |e VerfasserIn |0 (DE-588)1038104505 |0 (DE-627)756671280 |0 (DE-576)392125196 |4 aut | |
| 700 | 1 | |a Anikster, Yair |e VerfasserIn |4 aut | |
| 700 | 1 | |a Lederer, Gabriele |e VerfasserIn |4 aut | |
| 700 | 1 | |a Pertek, Anna |e VerfasserIn |4 aut | |
| 700 | 1 | |a Nteli, Polyxeni |e VerfasserIn |4 aut | |
| 700 | 1 | |a Laugwitz, Karl-Ludwig |e VerfasserIn |4 aut | |
| 700 | 1 | |a Moretti, Alessandra |e VerfasserIn |4 aut | |
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