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

Stem cell research - 1 May 2022

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

Abstract excerpt

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)....

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PMID: 35397396
DOI: 10.1016/j.scr.2022.102773

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

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Generation of two human iPSC lines, HMGUi003-A and MRIi028-A, carrying pathogenic biallelic variants in the PPCS gene.PMID 35397396Read ↗

Generation of a human induced pluripotent stem cell (iPSC) line (IBMS-iPSC-070-02) from a patient with neurodegeneration with brain iron accumulation (NBIA) having compound heterozygous mutations in PANK2 gene.Semantic proximity Read ↗

Mutations in PPCS, Encoding Phosphopantothenoylcysteine Synthetase, Cause Autosomal-Recessive Dilated Cardiomyopathy.Semantic proximity Read ↗

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