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从一名携带 CTNNB1 基因突变的 NEDSDV 患者中诱导生成人多能干细胞系(SBWCHi001-A)。

Generation of a human induced pluripotent stem cell line (SBWCHi001-A) from a patient with NEDSDV carrying a pathogenic mutation in CTNNB1 gene.

机构信息

Central Laboratory, Shenzhen Baoan Women's and Children's Hospital, Jinan University, Shenzhen 518102, China.

Shenzhen Key Laboratory of Viral Oncology, The Clinical Innovation & Research Centre, Shenzhen Hospital, Southern Medical University, Shenzhen 518110, China.

出版信息

Stem Cell Res. 2020 Dec;49:102091. doi: 10.1016/j.scr.2020.102091. Epub 2020 Nov 19.

Abstract

Neurodevelopmental disorder with spastic diplegia and visual defects (NEDSDV) is a rare disease. Patients with NEDSDV are usually accompanied by microcephaly, severe mental retardation, spasticity, and global developmental delay. Recent studies showed that mutations in CTNNB1 are responsible for the phenotype. Here, we generated an induced pluripotent stem cell (iPSC) line (SBWCHi001-A) from an 18-month-old patient with NEDSDV, who harbored a de novo heterozygous mutation in CTNNB1. The transduced iPSCs expressed pluripotency markers, and could differentiate into three germ layers in vitro. This cell line will be a cell model to explore the pathogenesis of NEDSDV and discover potential therapies.

摘要

伴有痉挛性双瘫和视觉缺陷的神经发育障碍(NEDSDV)是一种罕见疾病。NEDSDV 患者通常伴有小头畸形、严重智力迟钝、痉挛和全面发育迟缓。最近的研究表明,CTNNB1 突变是导致该表型的原因。在这里,我们从一名 18 个月大的 NEDSDV 患者中生成了一个诱导多能干细胞(iPSC)系(SBWCHi001-A),该患者携带 CTNNB1 的新生杂合突变。转导的 iPSC 表达多能性标记物,并能在体外分化为三个胚层。该细胞系将成为探索 NEDSDV 发病机制和发现潜在治疗方法的细胞模型。

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