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

Authors

Yujing Gao, University of Melbourne, Murdoch Children's Research Institute
Gabrielle Wilson, Murdoch Children's Research Institute, University of Melbourne
Kiymet Bozaoglu, Murdoch Children's Research Institute, University of Melbourne
Andrew Elefanty, Royal Children's Hospital Melbourne, Monash University, University of Melbourne
Edouard Stanley, Monash University, Royal Children's Hospital Melbourne, University of Melbourne
Mirella Dottori, University of Melbourne, University of WollongongFollow
Paul J. Lockhart, Royal Children's Hospital, Murdoch Children's Research Institute, University of Melbourne

RIS ID

122414

Publication Details

Gao, Y., Wilson, G., Bozaoglu, K., Elefanty, A. G., Stanley, E. G., Dottori, M. & Lockhart, P. J. (2018). Generation of RAB39B knockout isogenic human embryonic stem cell lines to model RAB39B-mediated Parkinson's disease. Stem Cell Research, 28 161-164.

Abstract

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.