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T1  - Creating CRISPR-Cas9 genome edited iPSC lines to model a patient-specific mutation in mitochondrial disease 
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UR  - URN:NBN:fi:hulib-202012165272; http://hdl.handle.net/10138/323231 
T3  -  
A1  - Jalkanen, Nelli 
A2  -  
PB  - Helsingin yliopisto 
Y1  - 2020 
LA  - eng 
AB  - Mitochondrial aminoacyl tRNA-synthetases (mt-aaRS) catalyse the charging of tRNAs with their cognate amino acids in mitochondria. Mutations in mt-aaRS cause tissue-specific mitochondrial diseases, especially affecting tissues with high energy expenditure like the nervous system, heart, and kidneys. However, disease mechanisms for the heterogeneous group of diseases have not yet been fully elucidated. Harnessing CRISPR-Cas9 genome editing in induced pluripotent stem cells (iPSC) provides an oppor... 
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KW  - CRISPR-Cas9; genome editing; iPSC; disease modelling; mitochondrial aminoacyl tRNA-synthetase; seryl tRNA-synthetase; mitochondrial disease; Neuroscience and psychobiology; Neuroscience and psychobiology; Neuroscience and psychobiology; Translationaalisen lääketieteen maisteriohjelma (Translational Medicine); Master's Programme in Translational Medicine; Magisterprogrammet i translationell medicin 
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