Generation of an induced pluripotent stem cell line from a patient with global development delay carrying DYRK1A mutation (c.1730T>A) and a gene correction isogenic iPSC line
Generation of an induced pluripotent stem cell line from a patient with global development delay carrying DYRK1A mutation (c.1730T>A) and a gene correction isogenic iPSC line
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DOI：
10.1016/j.scr.2021.102305
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发表时间：
2021-04-01
影响因子：
1.2
通讯作者：
Xiong, Man
中科院分区：
文献类型：
--
作者：
Ma, Ling;Wu, Ziyan;Xiong, Man
常染色体显性遗传精神发育迟滞 7 (MRD7) 或 DYRK1A 相关智力障碍综合征 (OMIM 614104) 是一种发育综合征，伴有小头畸形、智力障碍、语言发育迟缓和癫痫发作。 DYRK1A 单倍体不足是 MRD7 的原因。在这里，我们通过 CRISPR/Cas9 基因组编辑，从 MRD7 患者的外周血单核细胞 (PBMC) 中生成了带有突变 (DYRK1Ac.1730T>A) 的诱导多能干细胞 (iPSC) 系，以及同基因基因校正的对照 iPSC 系。两个 iPSC 系均显示出完全的多能性、正常的核型和分化能力，无需整合载体。这些 DYRK1A 突变体和同基因基因校正的 iPSC 对照系为研究 MRD7 的潜在分子机制提供了有用的模型。
Mental retardation autosomal dominant 7 (MRD7), or DYRK1A Related Intellectual Disability Syndrome (OMIM 614104) is a developmental syndrome with microcephaly, intellectual disability, language delay and epileptic seizures. Haploinsufficiency of DYRK1A is the cause of MRD7. Here, we generated an induced pluripotent stem cell (iPSC) line with the mutation (DYRK1Ac.1730T>A) from the Peripheral blood mononuclear cell (PBMC) of a MRD7 patient along with an isogenic gene-corrected control iPSC line by CRISPR/Cas9 genome editing. Both iPSC lines showed full pluripotency, normal karyotype and differentiation capacity without integrating vectors. These DYRK1A mutant and isogenic gene-corrected iPSC control line provides a useful model to study the underlying molecular mechanisms of MRD7.