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

Iuso A, Zhang F, Rusha E, Campbell B, Dorn T, Zanuttigh E, Haas D, Anikster Y, Lederer G, Pertek A, Nteli P, Laugwitz KL, Moretti A (2022)

Publication Type: Journal article

Publication year: 2022

Journal

Stem Cell Research Elsevier

Book Volume: 61

Article Number: 102773

DOI: 10.1016/j.scr.2022.102773

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.

Involved external institutions

Helmholtz Zentrum München - Deutsches Forschungszentrum für Gesundheit und Umwelt (HMGU) / Helmholtz Munich DE Germany (DE) Technische Universität München (TUM) DE Germany (DE) Universitätsklinikum Heidelberg DE Germany (DE) Tel Aviv University IL Israel (IL)

How to cite

APA:

Iuso, A., Zhang, F., Rusha, E., Campbell, B., Dorn, T., Zanuttigh, E.,... 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. https://doi.org/10.1016/j.scr.2022.102773

MLA:

Iuso, Arcangela, et al. "Generation of two human iPSC lines, HMGUi003-A and MRIi028-A, carrying pathogenic biallelic variants in the PPCS gene." Stem Cell Research 61 (2022).

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