TY - JOUR
T1 - 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
AU - Malerba, Natascia
AU - Benzoni, Patrizia
AU - Squeo, Gabriella Maria
AU - Milanesi, Raffaella
AU - Giannetti, Federica
AU - Sadleir, Lynette G.
AU - Poke, Gemma
AU - Augello, Bartolomeo
AU - Croce, Anna Irma
AU - Barbuti, Andrea
AU - Merla, Giuseppe
PY - 2019/10/1
Y1 - 2019/10/1
N2 - 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.
AB - 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.
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U2 - 10.1016/j.scr.2019.101547
DO - 10.1016/j.scr.2019.101547
M3 - Article
AN - SCOPUS:85071492865
VL - 40
JO - Stem Cell Research
JF - Stem Cell Research
SN - 1873-5061
M1 - 101547
ER -