Department of Psychiatry and Behavioral Sciences, Division of Neurobiology, Johns Hopkins University School of Medicine, Baltimore, MD, USA.
Department of Psychiatry and Behavioral Sciences, Division of Neurobiology, Johns Hopkins University School of Medicine, Baltimore, MD, USA; Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD, USA.
Stem Cell Res. 2021 May;53:102346. doi: 10.1016/j.scr.2021.102346. Epub 2021 Apr 20.
Spinocerebellar ataxia type 12 (SCA12) is caused by a CAG expansion mutation in PPP2R2B, a gene encoding a brain-specific regulatory unit of protein phosphatase 2A (PP2A); while normal alleles carry 4 to 31 triplets, the disease alleles carry 43 to 78 triplets. Here, by CRISPR/Cas9 genome editing, we have generated a human homozygous SCA12 iPSC line with 69 and 72 triplets for each allele. The homozygous SCA12 iPSCs have normal karyotype, express pluripotency markers and are able to differentiate into the three germ layers.
脊髓小脑共济失调 12 型（SCA12）是由 PPP2R2B 基因中的 CAG 扩展突变引起的，该基因编码蛋白磷酸酶 2A（PP2A）的脑特异性调节单位；正常等位基因携带 4 到 31 个三联体，疾病等位基因携带 43 到 78 个三联体。在这里，我们通过 CRISPR/Cas9 基因组编辑，产生了一个具有每个等位基因 69 和 72 个三联体的人类纯合 SCA12 iPSC 系。纯合 SCA12 iPSC 具有正常的核型，表达多能性标记物，并能够分化为三个胚层。
