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The search for new polymorphisms associated with hereditary diseases is important for diagnostics and the study of the disease's development pathology. The authors have analyzed a clinical exome of a Parkinson's disease patient and identified single-nucleotide variations in the LRRK2 (c.1000G>A, c.2167A>G) and PINK1 (c.1562A>C) genes. The LRRK2:c.1000G>A mutation has uncertain clinical significance and is interesting for further investigation. We generated induced pluripotent stem cells (iPSCs) from peripheral blood mononuclear cells (PBMCs) of the patient by nonintegrating episomal vectors. iPSCs demonstrate typical morphology and normal karyotype (46,XY), express pluripotency markers (OCT4, SOX2, NANOG, SSEA4, TRA-1-60), and are able to produce derivatives of three germ layers. [ABSTRACT FROM AUTHOR]

The pathological variant p.G2019S in the LRRK2 gene leads to the occurrence of a hereditary form of Parkinson's disease (PD) and affects 7% of patients with a familial form of the disease. However, the mechanisms that trigger pathological events during the development of the disease are not yet fully understood. The authors obtained iPSCs (ICGi043-A line) from peripheral blood mononuclear cells of a patient with a hereditary form of PD associated with the genetic variant c.6055G>A (p.G2019S, rs34637584) in the LRRK2 gene using transfection with episomal vectors. iPSCs rapidly proliferate in dense monolayer cell colonies, are positive for endogenous alkaline phosphatase, have a normal karyotype (46,XX), express pluripotency markers (OCT4, SOX2, NANOG, TRA-1-60, SSEA-4), and are capable to differentiate into three germ layers (ecto-, endo-, and mesoderm), which confirms their pluripotent status. Future directed differentiation of the obtained iPSCs into dopaminergic neurons will allow the creation of an in vitro cell model of PD associated with the pathological variant c.6055G>A in the LRRK2 gene and contribute to understanding the pathogenesis of PD. [ABSTRACT FROM AUTHOR]

We consider a mathematical model that describes biological treatment of wastewater. The model is a controlled nonlinear three-dimensional system of differential equations. A minimum-time optimal control problem is posed that achieves the required contaminant concentration in the shortest possible time. The problem is investigated by Pontryagin's maximum principle. The optimal control in this problem is represented by a switching function and its properties are analyzed. The results of this analysis make it possible to reduce the solution of the problem to a successive application of finite-dimensional constrained minimization and the parameter continuation method. The application of these approaches is discussed in detail, and the relevant numerical results are reported. [ABSTRACT FROM AUTHOR]

The review is devoted to characterization of stem cells involved in the formation of extraembryonic tissues during the early development of mammalian embryos. Here we present our results of characterization of stem cells from the trophoblast and extraembryonic endoderm of voles and comparative analysis of these cells and the corresponding mouse cells and discuss possible signal pathways maintaining these cells in undifferentiated state. [ABSTRACT FROM AUTHOR]

Wilson's disease is a rare autosomal recessive disorder of copper metabolism. The copper accumulation in the viscera appears due to the functional impairment of copper-transporting ATPase, which is encoded by the ATP7B gene. In this study, PBMCs of a patient with two ATP7B mutations were reprogrammed. The first mutation is a missense mutation p.H1069Q, which is the most frequent mutation in the human population. At the same time, the second one is a frameshift mutation p.Lys1013fs. The generated iPSC line had a normal karyotype, maintained the original genotype, expressed pluripotency markers, and demonstrated the ability to differentiate into derivatives of the three germ layers., Competing Interests: Declaration of Competing Interest The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper., (Copyright © 2021 The Authors. Published by Elsevier B.V. All rights reserved.)

ICGi021-A and ICGi022-A iPSC lines were obtained by reprogramming PBMCs of two healthy women of the Siberian population using episomal non-integrating vectors expressing Yamanaka factors. iPSC lines expressed pluripotency markers, had a normal karyotype and demonstrated the ability to differentiate into derivatives of the three germ layers. Clinical exome sequencing data of the original biosamples of the donors are available in the NCBI SRA database. The generated cell lines are useful as "healthy" control in biomedical studies., Competing Interests: Declaration of Competing Interest The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper., (Copyright © 2020 The Authors. Published by Elsevier B.V. All rights reserved.)

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 described. Despite the disease is autosomal recessive, the patient whose PBMCs were reprogrammed in the study harbours heterozygous mutation c.3207C > A (p.H1069Q). Detailed analysis of the ATP7B complete gene sequencing data has not revealed other known disease associated mutation. The generated iPSC lines maintained the original genotype, expressed pluripotency markers, had normal karyotype and demonstrated the ability to differentiate into derivatives of the three germ layers., Competing Interests: Declaration of Competing Interest The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper., (Copyright © 2020 The Authors. Published by Elsevier B.V. All rights reserved.)

Huntington's disease (HD) is an autosomal dominant neurodegenerative disease caused by CAG repeat expansion in the HTT gene. HD patient-specific induced pluripotent stem cells (iPSCs) represent an excellent model for the disease study. We generated iPSC line from blood mononuclear cells of HD patient with 38 CAG repeats in the HTT exon 1 using integration free episomal plasmids expressing Yamanaka factors. The iPSC line retained the disease causing mutation and expressed pluripotency markers. It also displayed a normal karyotype and the ability to differentiate into derivatives of three germ layers., (Copyright © 2020 The Authors. Published by Elsevier B.V. All rights reserved.)

Studying Parkinson's disease (PD), one of the most common neurodegenerative disorders worldwide, requires different model systems, including patient-specific induced pluripotent stem cell lines. With the help of non-integrating episomal vectors the iPSC lines ICGi015-A and ICGi015-B were generated from blood mononuclear cells of PD patient, carrying three SNPs, associated with PD development. The obtained iPSC lines express pluripotency markers and demonstrate the ability to in vitro differentiate into the three germ layers. These cell lines may be useful for studying molecular mechanisms of PD and for drug screening., (Copyright © 2019 The Author(s). Published by Elsevier B.V. All rights reserved.)

The induced pluripotent stem cell (iPSC) lines ICGi008-A and 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 carrying heterozygous V717I mutation in the APP gene. The generated iPSC lines maintained the original APP genotype, expressed pluripotency markers, exhibited a normal karyotype and retained the ability to differentiate into cell types of the three germ layers. The iPSC lines will be useful for the study of the AD molecular and cellular mechanisms and drug screening., (Copyright © 2019 The Authors. Published by Elsevier B.V. All rights reserved.)