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Molecular Biotechnology Programme Uppsala University School of Engineering

UPTEC X 12 022 Date of issue 2012-09

Author

Margarita Bartish

Title (English)

Establishing iPSCs as a method to model neurodevelopment in Down’s syndrome

Title (Swedish) Abstract

The derivation of pluripotent stem cells (now termed induced pluripotent stem cells, iPSC) from mature somatic cells was a finding of seminal importance to fundamental cell biology. Being pluripotent (able to differentiate into every cell type present in the adult animal body) and sharing most other characteristics with embryonic stem cells, but being much readier obtainable and their derivation free from ethical restraints, human induced pluripotent stem cells (hiPSC) provide access to cell types and insights into cell processes previously unattainable to researches. For this thesis, a hiPSC line was established from a skin biopsy donated by a Down’s syndrome patient. Having access to human pluripotent cells able to recapitulate the events of early neurogenesis in individuals with this disorder is invaluable to the understanding of its mechanisms. In parallel, work has been

performed on optimizing iPSC reprogramming protocol. By exchanging one of the transcription factors used for reprogramming with a reporter gene, genomic integration of reprogramming factors has become possible to be traced visually, enabling more efficient selection of reprogrammed iPSC colonies.

Keywords

Stem cells, iPSC, disease modeling, cell reprogramming Supervisors

Niklas Dahl, Uppsala University

Scientific reviewer

Göran Annerén, Uppsala University

Project name Sponsors

Language

English

Security

ISSN 1401-2138 Classification

Supplementary bibliographical information Pages

25

Biology Education Centre Biomedical Center Husargatan 3 Uppsala Box 592 S-75124 Uppsala Tel +46 (0)18 4710000 Fax +46 (0)18 471 4687

References

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