Vetchinova A S, Simonova V V, Novosadova E V, Manuilova E S, Nenasheva V V, Tarantul V Z, Grivennikov I A, Khaspekov L G, Illarioshkin S N
Research Center of Neurology, Moscow, Russia.
Institute of Molecular Genetics, Russian Academy of Sciences, Moscow, Russia.
Bull Exp Biol Med. 2018 Jul;165(3):378-381. doi: 10.1007/s10517-018-4174-y. Epub 2018 Jul 13.
We performed a cytogenetic analysis of the results of CRISPR/Cas9-correction of G2019S mutation in LRRK2 gene associated with Parkinson's disease. Genome editing was performed on induced pluripotent stem cells derived from fibroblasts of a patient carrying this mutation. A mosaic variant of tetraploidy 92 XXYY/46,XY (24-43% cells from various clones) was found in neuronal precursors differentiated from the induced pluripotent stem cells after gene editing procedure. Solitary cases of translocations and chromosome breaks were observed. These data confirm the importance of the development of new approaches ensuring genome stability in CRISPR/Cas9-edited cultures.
我们对与帕金森病相关的LRRK2基因G2019S突变的CRISPR/Cas9校正结果进行了细胞遗传学分析。对携带该突变患者的成纤维细胞来源的诱导多能干细胞进行了基因组编辑。在基因编辑程序后从诱导多能干细胞分化而来的神经前体细胞中发现了四倍体92 XXYY/46,XY的嵌合变体（来自不同克隆的24 - 43%细胞）。观察到了易位和染色体断裂的个别情况。这些数据证实了开发新方法以确保CRISPR/Cas9编辑培养物中基因组稳定性的重要性。
