PhD Scientific Days

Poster Presentation: Cardiovascular

P66: Induced pluripotent stem cell-based modelling of DiGeorge syndrome

Előadó neve

Berecz, Tünde

Előadó munkahelye

Heart and Vascular Center, Semmelweis University, Budapest, Hungary

Előadó telefonszáma

301986878

Előadó e-mail címe

berecztunde1990@gmail.com

Az előadás címe

Induced pluripotent stem cell-based modelling of DiGeorge syndrome

Szerző(k) neve és munkahelye

Tünde Berecz1,2, Andrea Molnár2, Irén Haltrich3, László Homolya1, Béla Merkely2, Gábor Földes2,4, Ágota Apáti1
1 Institute of Enzymology, Research Centre for Natural Sciences, Budapest, Hungary
2 Heart and Vascular Center, Semmelweis University, Budapest, Hungary
3 2nd Department of Pediatrics, Semmelweis University, Budapest, Hungary
4 National Heart and Lung Institute, Imperial College, London, United Kingdom

Szekció

Poster Presentation: Cardiovascular

Data of the presenter

Doctoral School: Basic Medicine
Program: Cardiovascular Disorders: Physiology and Medicine of Ischaemic Circulatory Diseases
Supervisor: Dr Gábor Földes
E-mail address of the presenter: berecztunde1990@gmail.com

Text of the abstract

Pluripotent stem cells (PSC) can be differentiated into derivatives of all three germ layers and develop into all cell types of the human body. Therefore PSCs provide us with the opportunity to study early stages of embryonic development as well as cellular maturation during differentiation. PSCs and their differentiated derivatives can be used for drug and toxicity testing, disease modelling and can be also later applied as potential cell therapy products in regenerative medicine. PSCs can be derived from embryonic state (ESC: embryonic stem cell) or generated by reprogramming differentiated somatic cells into pluripotent state (iPSC: induced pluripotent stem cell).
Understanding underlying pathological mechanisms in certain diseases is limited by currently available model systems. Our aim is to investigate in vitro cellular phenotypes in complex diseases such as DiGeorge syndrome, which is genetically determined and affects several organ systems (i.e. cardiovascular, nervous and immune systems). DiGeorge syndrome is caused by the deletion of the 22q11.2 chromosome region which affects only one allele but the hemizygous presence of the genes is not sufficient for the healthy phenotype. For modelling this disease we generated iPSCs from blood samples of a mother and her daughter (both suffering from disease) as well as from healthy spouse as control. Reprogramming of peripheral blood mononuclear cells to pluripotent state was performed by the expression of four transcription factors (Oct3/4, Sox2, Klf4 and c-Myc) using Sendai virus vector (SeV). SeV is a single stranded RNA virus which does not integrate into the host’s genome. iPSCs are being differentiated into cell types relevant to the disease by mimicking the in vivo developmental program, thus we perform cardiac, endothelial and neural differentiation. During this process we compare phenotypes of disease affected and control cells.

Azonosító

P66

Kind

Szabad

Előadás fájl jóváhagyás

nem rendelkezett róla

Előadó

1099

PhD Scientific Days 2017

Budapest, 11-12 April 2017