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从一名携带 DYRK1A 突变(c.1730T>A)和基因校正同基因 iPSC 系的全球发育迟缓患者中诱导产生多能干细胞系。

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.

机构信息

Stem Cell Research Center, Institute of Pediatrics, Children's Hospital, Fudan University, 399 Wanyuan Road, Shanghai 201102, China; Department of Neonatology, Children's Hospital of Fudan University, Shanghai, China.

Institute of Neuroscience, CAS Center for Excellence in Brain Science and Intelligence Technology, Chinese Academy of Sciences, Shanghai 200031, China.

出版信息

Stem Cell Res. 2021 May;53:102305. doi: 10.1016/j.scr.2021.102305. Epub 2021 Mar 20.

Abstract

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.

摘要

常染色体显性遗传智力障碍 7 型(MRD7),又称 DYRK1A 相关智力障碍综合征(OMIM 614104),是一种以小头畸形、智力障碍、语言发育迟缓及癫痫发作为特征的发育综合征。DYRK1A 的杂合功能缺失是导致 MRD7 的原因。本研究通过 CRISPR/Cas9 基因组编辑,从 1 名 MRD7 患者的外周血单核细胞(PBMC)中获得了携带有突变(DYRK1Ac.1730T>A)的诱导多能干细胞(iPSC)系,并构建了相应的基因校正对照 iPSC 系。这两种 iPSC 系均显示出完全的多能性、正常核型和分化能力,且没有整合载体。该 DYRK1A 突变型和基因校正对照 iPSC 系为研究 MRD7 的潜在分子机制提供了一个有用的模型。

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