TY  - CONF
AU  - Simeunović, Ivana
AU  - Čuturilo, Goran
AU  - Kovačević-Grujičić, Nataša
AU  - Petter, Olena
AU  - Perić, Mina
AU  - Kostić, Jovana
AU  - Harwood J., Adrian
AU  - Stevanović, Milena
AU  - Drakulić, Danijela
PY  - 2023
UR  - https://imagine.imgge.bg.ac.rs/handle/123456789/2138
AB  - Introduction: Neurodevelopmental disorders (NDDs), such as autism spectrum disorders (ASD), intellectual disability (ID),schizophrenia, and bipolar disorder, are caused by the alterationsin early brain development. They affect approximately 4% of the European population and represent a high
socio-economic impact and financial burden. Treatments of NDDs are focused on symptoms since molecular mechanisms underlying NDDs are still unknown. One of the syndromes with a high risk for NDDs
is 22q11.2 Deletion Syndrome (22q11.2DS) caused by microdeletion 22q11.2. 22q11.2 microdeletion is
the most common microdeletion in humans; it is one of the strongest known risk factorsfor development
of psychiatric illness and the highest known genetic risk for schizophrenia (approximately, 25% of patients with 22q11.2DS develop schizophrenia compared to 1% in the general population).
Methods: Genomic and clinical findings in 35 patients with 22q11.2DS were analyzed and peripheral
blood mononuclear cells of patients with 22q11.2DS and healthy controls were reprogrammed.
Results: The majority of patients have 3 Mb deletion and nine of them have inherited 22q11.2 microdeletion from parents. Twenty-one different clinical presentations are revealed in the cohort with developmental delay detected in about 50% of patients. iPSCs were generated from four patients with
22q11.2 microdeletion and five healthy controls.
Conclusion: Cohort of patients with 22q11.2DS isform and iPSCs were generated which enable research
of molecular mechanisms underlying NDDs.
PB  - Institute of Molecular Genetics and Genetic Engineering (IMGGE), University of Belgrade
C3  - CoMBoS2 – the Second Congress of Molecular Biologists of Serbia, Abstract Book – Trends in Molecular Biology, Special issue 06-08 October 2023, Belgrade, Serbia
T1  - Generation of induced pluripotent stem cells derived from patients with 22q11.2 deletion syndrome as a tool for studying neurodevelopmental disorders
EP  - 84
SP  - 84
UR  - https://hdl.handle.net/21.15107/rcub_imagine_2138
ER  - 

@conference{
author = "Simeunović, Ivana and Čuturilo, Goran and Kovačević-Grujičić, Nataša and Petter, Olena and Perić, Mina and Kostić, Jovana and Harwood J., Adrian and Stevanović, Milena and Drakulić, Danijela",
year = "2023",
abstract = "Introduction: Neurodevelopmental disorders (NDDs), such as autism spectrum disorders (ASD), intellectual disability (ID),schizophrenia, and bipolar disorder, are caused by the alterationsin early brain development. They affect approximately 4% of the European population and represent a high
socio-economic impact and financial burden. Treatments of NDDs are focused on symptoms since molecular mechanisms underlying NDDs are still unknown. One of the syndromes with a high risk for NDDs
is 22q11.2 Deletion Syndrome (22q11.2DS) caused by microdeletion 22q11.2. 22q11.2 microdeletion is
the most common microdeletion in humans; it is one of the strongest known risk factorsfor development
of psychiatric illness and the highest known genetic risk for schizophrenia (approximately, 25% of patients with 22q11.2DS develop schizophrenia compared to 1% in the general population).
Methods: Genomic and clinical findings in 35 patients with 22q11.2DS were analyzed and peripheral
blood mononuclear cells of patients with 22q11.2DS and healthy controls were reprogrammed.
Results: The majority of patients have 3 Mb deletion and nine of them have inherited 22q11.2 microdeletion from parents. Twenty-one different clinical presentations are revealed in the cohort with developmental delay detected in about 50% of patients. iPSCs were generated from four patients with
22q11.2 microdeletion and five healthy controls.
Conclusion: Cohort of patients with 22q11.2DS isform and iPSCs were generated which enable research
of molecular mechanisms underlying NDDs.",
publisher = "Institute of Molecular Genetics and Genetic Engineering (IMGGE), University of Belgrade",
journal = "CoMBoS2 – the Second Congress of Molecular Biologists of Serbia, Abstract Book – Trends in Molecular Biology, Special issue 06-08 October 2023, Belgrade, Serbia",
title = "Generation of induced pluripotent stem cells derived from patients with 22q11.2 deletion syndrome as a tool for studying neurodevelopmental disorders",
pages = "84-84",
url = "https://hdl.handle.net/21.15107/rcub_imagine_2138"
}

Simeunović, I., Čuturilo, G., Kovačević-Grujičić, N., Petter, O., Perić, M., Kostić, J., Harwood J., A., Stevanović, M.,& Drakulić, D.. (2023). Generation of induced pluripotent stem cells derived from patients with 22q11.2 deletion syndrome as a tool for studying neurodevelopmental disorders. in CoMBoS2 – the Second Congress of Molecular Biologists of Serbia, Abstract Book – Trends in Molecular Biology, Special issue 06-08 October 2023, Belgrade, Serbia
Institute of Molecular Genetics and Genetic Engineering (IMGGE), University of Belgrade., 84-84.
https://hdl.handle.net/21.15107/rcub_imagine_2138

Simeunović I, Čuturilo G, Kovačević-Grujičić N, Petter O, Perić M, Kostić J, Harwood J. A, Stevanović M, Drakulić D. Generation of induced pluripotent stem cells derived from patients with 22q11.2 deletion syndrome as a tool for studying neurodevelopmental disorders. in CoMBoS2 – the Second Congress of Molecular Biologists of Serbia, Abstract Book – Trends in Molecular Biology, Special issue 06-08 October 2023, Belgrade, Serbia. 2023;:84-84.
https://hdl.handle.net/21.15107/rcub_imagine_2138 .

Simeunović, Ivana, Čuturilo, Goran, Kovačević-Grujičić, Nataša, Petter, Olena, Perić, Mina, Kostić, Jovana, Harwood J., Adrian, Stevanović, Milena, Drakulić, Danijela, "Generation of induced pluripotent stem cells derived from patients with 22q11.2 deletion syndrome as a tool for studying neurodevelopmental disorders" in CoMBoS2 – the Second Congress of Molecular Biologists of Serbia, Abstract Book – Trends in Molecular Biology, Special issue 06-08 October 2023, Belgrade, Serbia (2023):84-84,
https://hdl.handle.net/21.15107/rcub_imagine_2138 .

TY  - CONF
AU  - Kostić, Jovana
AU  - Drakulić, Danijela
AU  - Čuturilo, Goran
AU  - Petter, Olena
AU  - Perić, Mina
AU  - Simeunović, Ivana
AU  - Harwood J., Adrian
AU  - Stevanović, Milena
AU  - Kovačević-Grujičić, Nataša
PY  - 2023
UR  - https://imagine.imgge.bg.ac.rs/handle/123456789/2122
AB  - Introduction: Neurodevelopmental disorders (NDDs), such as autism spectrum disorders (ASD), schizophrenia, and intellectual disability, represent important public health challenge in modern societies
with a prevalence of about 10 to 15% of all births and the tendency of increasing worldwide. They are
caused by disruption of early brain development. Treatments of NDDs are focused on symptoms due to
a limited understanding of underlying pathophysiological mechanisms. Individuals with the 22q11.2
Duplication Syndrome (22q11.2dup), caused by heterozygous 22q11.2 microduplication, have an elevated risk of developing NDDs. Literature data revealed that ASD is detected in 14-25% of patients with
22q11.2dup while schizophrenia is less common in these patients than in the general population, suggesting that 22q11.2 duplication might be protective against schizophrenia.
Methods: Genomic and clinical findingsin patients with 22q11.2dup were analyzed and peripheral blood
mononuclear cells of patients with 22q11.2dup were reprogrammed.
Results: We formed a cohort of 8 patients with 22q11.2dup. The majority of patientsin our cohort have
microduplication of approximately 3Mb (80%). Also, the majority of them are familial cases and in 67%
of cases, the 22q11.2 microduplication is inherited from the mother. Congenital heart defects were detected in 25% of our patients, while all tested patients have facial dysmorphism. iPSCs were generated
from three patients with a familial form of 22q11.2dup and their mothers.
Conclusion: A cohort of patients with 22q11.2dup is formed and iPSCs were generated which can be
used as a model system for studying NDDs.
PB  - Institute of Molecular Genetics and Genetic Engineering (IMGGE), University of Belgrade
C3  - CoMBoS2 – the Second Congress of Molecular Biologists of Serbia, Abstract Book – Trends in Molecular Biology, Special issue 06-08 October 2023, Belgrade, Serbia
T1  - Establishment of induced pluripotent stem cells from patients with 22q11.2 duplication syndrome as a model system for studying neurodevelopmental disorders
EP  - 66
SP  - 66
UR  - https://hdl.handle.net/21.15107/rcub_imagine_2122
ER  - 

@conference{
author = "Kostić, Jovana and Drakulić, Danijela and Čuturilo, Goran and Petter, Olena and Perić, Mina and Simeunović, Ivana and Harwood J., Adrian and Stevanović, Milena and Kovačević-Grujičić, Nataša",
year = "2023",
abstract = "Introduction: Neurodevelopmental disorders (NDDs), such as autism spectrum disorders (ASD), schizophrenia, and intellectual disability, represent important public health challenge in modern societies
with a prevalence of about 10 to 15% of all births and the tendency of increasing worldwide. They are
caused by disruption of early brain development. Treatments of NDDs are focused on symptoms due to
a limited understanding of underlying pathophysiological mechanisms. Individuals with the 22q11.2
Duplication Syndrome (22q11.2dup), caused by heterozygous 22q11.2 microduplication, have an elevated risk of developing NDDs. Literature data revealed that ASD is detected in 14-25% of patients with
22q11.2dup while schizophrenia is less common in these patients than in the general population, suggesting that 22q11.2 duplication might be protective against schizophrenia.
Methods: Genomic and clinical findingsin patients with 22q11.2dup were analyzed and peripheral blood
mononuclear cells of patients with 22q11.2dup were reprogrammed.
Results: We formed a cohort of 8 patients with 22q11.2dup. The majority of patientsin our cohort have
microduplication of approximately 3Mb (80%). Also, the majority of them are familial cases and in 67%
of cases, the 22q11.2 microduplication is inherited from the mother. Congenital heart defects were detected in 25% of our patients, while all tested patients have facial dysmorphism. iPSCs were generated
from three patients with a familial form of 22q11.2dup and their mothers.
Conclusion: A cohort of patients with 22q11.2dup is formed and iPSCs were generated which can be
used as a model system for studying NDDs.",
publisher = "Institute of Molecular Genetics and Genetic Engineering (IMGGE), University of Belgrade",
journal = "CoMBoS2 – the Second Congress of Molecular Biologists of Serbia, Abstract Book – Trends in Molecular Biology, Special issue 06-08 October 2023, Belgrade, Serbia",
title = "Establishment of induced pluripotent stem cells from patients with 22q11.2 duplication syndrome as a model system for studying neurodevelopmental disorders",
pages = "66-66",
url = "https://hdl.handle.net/21.15107/rcub_imagine_2122"
}

Kostić, J., Drakulić, D., Čuturilo, G., Petter, O., Perić, M., Simeunović, I., Harwood J., A., Stevanović, M.,& Kovačević-Grujičić, N.. (2023). Establishment of induced pluripotent stem cells from patients with 22q11.2 duplication syndrome as a model system for studying neurodevelopmental disorders. in CoMBoS2 – the Second Congress of Molecular Biologists of Serbia, Abstract Book – Trends in Molecular Biology, Special issue 06-08 October 2023, Belgrade, Serbia
Institute of Molecular Genetics and Genetic Engineering (IMGGE), University of Belgrade., 66-66.
https://hdl.handle.net/21.15107/rcub_imagine_2122

Kostić J, Drakulić D, Čuturilo G, Petter O, Perić M, Simeunović I, Harwood J. A, Stevanović M, Kovačević-Grujičić N. Establishment of induced pluripotent stem cells from patients with 22q11.2 duplication syndrome as a model system for studying neurodevelopmental disorders. in CoMBoS2 – the Second Congress of Molecular Biologists of Serbia, Abstract Book – Trends in Molecular Biology, Special issue 06-08 October 2023, Belgrade, Serbia. 2023;:66-66.
https://hdl.handle.net/21.15107/rcub_imagine_2122 .

Kostić, Jovana, Drakulić, Danijela, Čuturilo, Goran, Petter, Olena, Perić, Mina, Simeunović, Ivana, Harwood J., Adrian, Stevanović, Milena, Kovačević-Grujičić, Nataša, "Establishment of induced pluripotent stem cells from patients with 22q11.2 duplication syndrome as a model system for studying neurodevelopmental disorders" in CoMBoS2 – the Second Congress of Molecular Biologists of Serbia, Abstract Book – Trends in Molecular Biology, Special issue 06-08 October 2023, Belgrade, Serbia (2023):66-66,
https://hdl.handle.net/21.15107/rcub_imagine_2122 .