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Stem Cell Res. 2019 Aug 22;40:101547. doi: 10.1016/j.scr.2019.101547. [Epub ahead of print]

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.

Author information

1
Division of Medical Genetics, Fondazione IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy.
2
The PaceLab, Department of Biosciences, Università degli Studi di Milano, Italy.
3
Department of Paediatrics and Child Health, University of Otago Wellington, Wellington, New Zealand.
4
Division of Medical Genetics, Fondazione IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy. Electronic address: g.merla@operapadrepio.it.

Abstract

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 fibroblasts of a patient with the homozygous c.136delG frameshift variant, and a GNB5 knock-out (KO) line by CRISPR/Cas9 editing. hiPSCs express common pluripotency markers and differentiate into the three germ layers. These lines represent a powerful cellular model to study the molecular basis of GNB5-related disorders as well as offer an in vitro model for drug screening.

PMID:
31479876
DOI:
10.1016/j.scr.2019.101547
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