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

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...

Celý popis

Podrobná bibliografie

Hlavní autoři:	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
Médium:	Artigo
Jazyk:	Inglês
Vydáno:	Elsevier 2022-05-01
Edice:	Stem Cell Research
On-line přístup:	http://www.sciencedirect.com/science/article/pii/S1873506122001222
Tagy:	Přidat tag Žádné tagy, Buďte první, kdo vytvoří štítek k tomuto záznamu!