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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.*

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

Stem Cell Res. 61:102773 (2022)
Publ. Version/Full Text Research data DOI PMC
Open Access Gold
Creative Commons Lizenzvertrag
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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Publication type Article: Journal article
Document type Scientific Article
Corresponding Author
ISSN (print) / ISBN 1873-5061
e-ISSN 1876-7753
Journal Stem Cell Research
Quellenangaben Volume: 61, Issue: , Pages: , Article Number: 102773 Supplement: ,
Publisher Elsevier
Non-patent literature Publications
Reviewing status Peer reviewed
Institute(s) Institute of Neurogenomics (ING)
Institute of Stem Cell Research (ISF)