posted on 2024-11-15, 01:50authored byYujing Gao, Gabrielle Wilson, Kiymet Bozaoglu, Andrew Elefanty, Edouard Stanley, Mirella DottoriMirella Dottori, Paul J Lockhart
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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Citation
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.