Generation of the induced human pluripotent stem cell lines CSSi009-A from a patient with a GNB5 pathogenic variant, and CSSi010-A from a CRISPR/Cas9 engineered GNB5 knock-out human cell line

GNB5 loss-of-function pathogenic variants cause IDDCA, a rare autosomal recessive human genetic disease characterized by infantile onset of intellectual disability, sinus bradycardia, hypotonia, visual abnormalities, and epilepsy. We generated human induced pluripotent stem cells (hiPSCs) from skin...

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Main Authors: Natascia Malerba, Patrizia Benzoni, Gabriella Maria Squeo, Raffaella Milanesi, Federica Giannetti, Lynette G. Sadleir, Gemma Poke, Bartolomeo Augello, Anna Irma Croce, Andrea Barbuti, Giuseppe Merla
Format: Article
Language:English
Published: Elsevier 2019-10-01
Series:Stem Cell Research
Online Access:http://www.sciencedirect.com/science/article/pii/S1873506119301771