Familial hypercholesterolemia (FH) is a monogenic disease, leading to atherosclerosis due to a high level of low-density lipoprotein cholesterol. Most cases of the disease are based on pathological variants in the LDLR gene. Available treatments…
Human induced pluripotent stem cells were first obtained in 2007 by Yamanaka and colleagues, for which he received the Nobel Prize in 2012.
Induced pluripotent stem cells are a superior object for both fundamental research, in particular, studying the pluripotency state and developmental biology, and applied fields of science – the generation of cell models of various human diseases and cell replacement therapy. This section presents an IPSC collection of the laboratory.
Parkinson's disease (PD) is one of the most common neurodegenerative diseases. The development of the disease is associated with the death of neurons, mainly in the substantia nigra, which produce the neurotransmitter dopamine. Insufficiency of…
The iPSC lines ICGi008-A and ICGi008-B (https://hpscreg.eu/cell-line/ICGi008-A, https://hpscreg.eu/cell-line/ICGi008-B) were generated from dermal fibroblasts using episomal vectors expressing pluripotency factors. Dermal fibroblasts were obtained from a 55 year old male Сaucasian familial Alzheimer's disease (AD) patient…
Huntington’s disease (HD) human induced pluripotent stem cells (iPSCs) represent a useful and valid model for the disease study (molecular mechanisms, large-scale drug screening, and toxicological studies). iPSC lines ICGi007-A (https://hpscreg.eu/cell-line/ICGi007-A), ICGi018-A (https://hpscreg.eu/cell-line/ICGi018-A) and ICGi033-A…
Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease characterized by death of motor neurons. To date, neither etiology nor pathogenesis of ALS is clear, which leads to the absence of an effective treatment strategy. The…
Spinal muscular atrophy (SMA) is characterized by the degeneration of motor neurons in the anterior horn of the spinal cord, which leads to striated muscle weakness. SMA is an autosomal recessive disease caused by deletion,…
Duchenne muscular dystrophy (DMD) is a severe and rapidly progressive hereditary muscular disease with X-linked recessive inheritance, occurring mainly in males. A complete loss of dystrophin resulted from out-of-frame deletion mutations in the DMD gene…
Wilson's disease is an inherited disorder associated with copper accumulation in the liver, brain and other vital organs. Wilson's disease is caused by mutations in the ATP7B gene. Over 300 mutations of ATP7B have been…
Long QT syndrome (LQTS) is an arrhythmic disease leading to an increased risk of ventricular tachycardia and sudden death. The congenital form of the syndrome is caused by mutations in proteins involved in cardiomyocyte ionic…