Generation of two human iPSC lines, HMGUi003-A and MRIi028-A, carrying pathogenic biallelic variants in the PPCS gene

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

doi:10.1016/j.scr.2022.102773

Generation of two human iPSC lines, HMGUi003-A and MRIi028-A, carrying pathogenic biallelic variants in the PPCS gene

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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2 Scopus citations

Abstract

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.

Original language	English
Article number	102773
Journal	Stem Cell Research
Volume	61
DOIs	https://doi.org/10.1016/j.scr.2022.102773
State	Published - May 2022

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Iuso, A., Zhang, F., Rusha, E., Campbell, B., Dorn, T., Zanuttigh, E., Haas, D., Anikster, Y., Lederer, G., Pertek, A., Nteli, P., Laugwitz, K. L., & Moretti, A. (2022). Generation of two human iPSC lines, HMGUi003-A and MRIi028-A, carrying pathogenic biallelic variants in the PPCS gene. Stem Cell Research, 61, Article 102773. https://doi.org/10.1016/j.scr.2022.102773

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abstract = "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.",

author = "Arcangela Iuso and Fangfang Zhang and Ejona Rusha and Birgit Campbell and Tatjana Dorn and Enrica Zanuttigh and Dorothea Haas and Yair Anikster and Gabriele Lederer and Anna Pertek and Polyxeni Nteli and Laugwitz, {Karl Ludwig} and Alessandra Moretti",

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AU - Iuso, Arcangela

AU - Zhang, Fangfang

AU - Rusha, Ejona

AU - Campbell, Birgit

AU - Dorn, Tatjana

AU - Zanuttigh, Enrica

AU - Haas, Dorothea

AU - Anikster, Yair

AU - Lederer, Gabriele

AU - Pertek, Anna

AU - Nteli, Polyxeni

AU - Laugwitz, Karl Ludwig

AU - Moretti, Alessandra

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AB - 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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Generation of two human iPSC lines, HMGUi003-A and MRIi028-A, carrying pathogenic biallelic variants in the PPCS gene

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