Abstract
The search for new polymorphisms associated with hereditary diseases is important for diagnostics and the study of the disease development pathology. We have analyzed clinical exome of a Parkinson’s disease patient and identified single-nucleotide variations in the LRRK2 (c.1000GA, c.2167AG) and PINK1 (c.1562AC) genes. The LRRK2:c.1000GA mutation has uncertain clinical significance, and is interesting for further investigation. We generated induced pluripotent stem cells (IPSCs) from PBMCs of the patient by a non-integrating 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.
Sign-in/Register to access full text options 
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a callDisclaimer: All third-party content on this website/platform is and will remain the property of their respective owners and is provided on "as is" basis without any warranties, express or implied. Use of third-party content does not indicate any affiliation, sponsorship with or endorsement by them. Any references to third-party content is to identify the corresponding services and shall be considered fair use under The CopyrightLaw.
