Generation of RAB39B knockout isogenic human embryonic stem cell lines to model RAB39B-mediated Parkinson's disease

Mutations in RAB39B are a known cause of X-linked early onset Parkinson's disease. Isogenic human embryonic stem cell lines carrying two independent deletions of RAB39B were generated using CRISPR/Cas9 genome editing tool. The deletions were confirmed by PCR and direct sequence analysis in two...

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Main Authors: Yujing Gao, Gabrielle R. Wilson, Kiymet Bozaoglu, Andrew G. Elefanty, Edouard G. Stanley, Mirella Dottori, Paul J. Lockhart
Format: Article
Language:English
Published: Elsevier 2018-04-01
Series:Stem Cell Research
Online Access:http://www.sciencedirect.com/science/article/pii/S1873506118300606
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author Yujing Gao
Gabrielle R. Wilson
Kiymet Bozaoglu
Andrew G. Elefanty
Edouard G. Stanley
Mirella Dottori
Paul J. Lockhart
author_facet Yujing Gao
Gabrielle R. Wilson
Kiymet Bozaoglu
Andrew G. Elefanty
Edouard G. Stanley
Mirella Dottori
Paul J. Lockhart
author_sort Yujing Gao
collection DOAJ
description Mutations in RAB39B are a known cause of X-linked early onset Parkinson's disease. Isogenic human embryonic stem cell lines carrying two independent deletions of RAB39B were generated using CRISPR/Cas9 genome editing tool. The deletions were confirmed by PCR and direct sequence analysis in two edited stem cell lines. Both cell lines showed pluripotency and displayed a normal karyotype. Further, they were able to form embryoid bodies in vitro, and express markers indicative of differentiation to the three germ layers.
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spelling doaj.art-ba0bd565fea048aa953748f879e21cf82022-12-21T17:59:47ZengElsevierStem Cell Research1873-50612018-04-0128161164Generation of RAB39B knockout isogenic human embryonic stem cell lines to model RAB39B-mediated Parkinson's diseaseYujing Gao0Gabrielle R. Wilson1Kiymet Bozaoglu2Andrew G. Elefanty3Edouard G. Stanley4Mirella Dottori5Paul J. Lockhart6Bruce Lefroy Centre for Genetic Health Research, Murdoch Children's Research Institute, Melbourne, Victoria, 3052, Australia; Department of Paediatrics, The University of Melbourne, Melbourne, Victoria, 3052, AustraliaBruce Lefroy Centre for Genetic Health Research, Murdoch Children's Research Institute, Melbourne, Victoria, 3052, Australia; Department of Paediatrics, The University of Melbourne, Melbourne, Victoria, 3052, AustraliaBruce Lefroy Centre for Genetic Health Research, Murdoch Children's Research Institute, Melbourne, Victoria, 3052, Australia; Department of Paediatrics, The University of Melbourne, Melbourne, Victoria, 3052, AustraliaDepartment of Paediatrics, The University of Melbourne, Melbourne, Victoria, 3052, Australia; Blood Cell Development and Disease Laboratory, Murdoch Children's Research Institute, The Royal Children's Hospital, Melbourne, Victoria, 3052, Australia; Department of Anatomy and Developmental Biology, Faculty of Medicine, Nursing and Health Sciences, Monash University, Clayton, Victoria, AustraliaDepartment of Paediatrics, The University of Melbourne, Melbourne, Victoria, 3052, Australia; Stem Cell Technology Laboratory, Murdoch Children's Research Institute, The Royal Children's Hospital, , Melbourne, Victoria, 3052, Australia; Department of Anatomy and Developmental Biology, Faculty of Medicine, Nursing and Health Sciences, Monash University, Clayton, Victoria, AustraliaCentre for Neural Engineering, The University of Melbourne, Carlton, VIC, 3010, Australia; Illawarra Health and Medical Research Institute, Centre for Molecular and Medical Bioscience, University of Wollongong, Wollongong, New South Wales, 2500, AustraliaBruce Lefroy Centre for Genetic Health Research, Murdoch Children's Research Institute, Melbourne, Victoria, 3052, Australia; Department of Paediatrics, The University of Melbourne, Melbourne, Victoria, 3052, Australia; Corresponding author at: Associate Professor Paul J. Lockhart, Murdoch Children's Research Institute, 50 Flemington Road Parkville, Victoria, 3052, Australia.Mutations in RAB39B are a known cause of X-linked early onset Parkinson's disease. Isogenic human embryonic stem cell lines carrying two independent deletions of RAB39B were generated using CRISPR/Cas9 genome editing tool. The deletions were confirmed by PCR and direct sequence analysis in two edited stem cell lines. Both cell lines showed pluripotency and displayed a normal karyotype. Further, they were able to form embryoid bodies in vitro, and express markers indicative of differentiation to the three germ layers.http://www.sciencedirect.com/science/article/pii/S1873506118300606
spellingShingle Yujing Gao
Gabrielle R. Wilson
Kiymet Bozaoglu
Andrew G. Elefanty
Edouard G. Stanley
Mirella Dottori
Paul J. Lockhart
Generation of RAB39B knockout isogenic human embryonic stem cell lines to model RAB39B-mediated Parkinson's disease
Stem Cell Research
title Generation of RAB39B knockout isogenic human embryonic stem cell lines to model RAB39B-mediated Parkinson's disease
title_full Generation of RAB39B knockout isogenic human embryonic stem cell lines to model RAB39B-mediated Parkinson's disease
title_fullStr Generation of RAB39B knockout isogenic human embryonic stem cell lines to model RAB39B-mediated Parkinson's disease
title_full_unstemmed Generation of RAB39B knockout isogenic human embryonic stem cell lines to model RAB39B-mediated Parkinson's disease
title_short Generation of RAB39B knockout isogenic human embryonic stem cell lines to model RAB39B-mediated Parkinson's disease
title_sort generation of rab39b knockout isogenic human embryonic stem cell lines to model rab39b mediated parkinson s disease
url http://www.sciencedirect.com/science/article/pii/S1873506118300606
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