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

Publikation: Beitrag in FachzeitschriftArtikelBegutachtung

2 Zitate (Scopus)

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.

OriginalspracheEnglisch
Aufsatznummer102773
FachzeitschriftStem Cell Research
Jahrgang61
DOIs
PublikationsstatusVeröffentlicht - Mai 2022
Extern publiziertJa

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