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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

Stem Cell Research

Sep 4, 2019

Natascia MalerbaGiuseppe Merla

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 (hiPSC...read more

Mentioned in this Paper

Biological Markers
Pluripotent Stem Cells
Mice, Inbred BALB C
Skin Fibroblast
CRISPR-Cas Systems
Epilepsy
Knock-out
Human Induced Pluripotent Stem Cells
Neonatal Hypotonia
Knock-in
1
6
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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

Stem Cell Research

Sep 4, 2019

Natascia MalerbaGiuseppe Merla

PMID: 31479876

DOI: 10.1016/j.scr.2019.101547

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 (hiPSC...read more

Mentioned in this Paper

Biological Markers
Pluripotent Stem Cells
Mice, Inbred BALB C
Skin Fibroblast
CRISPR-Cas Systems
Epilepsy
Knock-out
Human Induced Pluripotent Stem Cells
Neonatal Hypotonia
Knock-in
1
6

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CRISPRi Screens for Antibiotics

The CRISPR-Cas system is a gene editing technique that can be used for high-throughput genome-wide screens to identify modes of actions of novel antibiotics. Here is the latest research.

Epilepsy

Epilepsy is a chronic neurological disorder characterized by unprovoked and recurrent seizures. Discover the latest research on factors and mechanisms that underlie epilepsy here.

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