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.
CRISPR-Cas Systems
Cell Differentiation
Cell Line
/ cytology
Cells, Cultured
Child
Female
Fibroblasts
/ cytology
Frameshift Mutation
GTP-Binding Protein beta Subunits
/ genetics
Gene Editing
Gene Knockout Techniques
Genetic Diseases, Inborn
/ genetics
Genetic Engineering
Humans
Induced Pluripotent Stem Cells
/ cytology
Male
Middle Aged
Journal
Stem cell research
ISSN: 1876-7753
Titre abrégé: Stem Cell Res
Pays: England
ID NLM: 101316957
Informations de publication
Date de publication:
10 2019
10 2019
Historique:
received:
30
07
2019
revised:
13
08
2019
accepted:
20
08
2019
pubmed:
4
9
2019
medline:
7
5
2020
entrez:
4
9
2019
Statut:
ppublish
Résumé
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.
Identifiants
pubmed: 31479876
pii: S1873-5061(19)30177-1
doi: 10.1016/j.scr.2019.101547
pii:
doi:
Substances chimiques
GNB5 protein, human
0
GTP-Binding Protein beta Subunits
0
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
101547Informations de copyright
Copyright © 2019 The Authors. Published by Elsevier B.V. All rights reserved.