从 3 名男性和 3 名女性 CDKL5 缺乏症（CDD）患者中生成和鉴定人诱导多能干细胞（iPSCs）。
Generation and characterization of human induced pluripotent stem cells (iPSCs) from three male and three female patients with CDKL5 Deficiency Disorder (CDD).
机构信息
Translational Neuroscience Center, Boston Children's Hospital, Boston, MA, USA.
Orphan Disease Center, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.
出版信息
Stem Cell Res. 2021 May;53:102276. doi: 10.1016/j.scr.2021.102276. Epub 2021 Mar 5.
CDKL5 Deficiency Disorder (CDD) is a rare X-linked monogenic developmental encephalopathy that is estimated to affect 1:42,000 live births. CDD is caused by pathogenic variants in the CDKL5 gene and is observed in both male and female patients. Here, we report the generation and characterization of induced pluripotent stem cells (iPSCs) derived from fibroblasts of six unrelated CDD patients-three males and three females. These patients are clinically diagnosed to present with classic CDD phenotypes, including refractory epilepsy and global developmental delay, and are being followed in a longitudinal clinical study.
CDKL5 缺乏症（CDD）是一种罕见的 X 连锁单基因发育性脑病，估计每 42000 例活产儿中就有 1 例发病。CDD 是由 CDKL5 基因突变引起的，在男性和女性患者中均有观察到。在这里，我们报告了从六个无关的 CDD 患者（男性 3 例，女性 3 例）的成纤维细胞中诱导产生的多能干细胞（iPSC）的生成和特征。这些患者的临床诊断为表现出典型的 CDD 表型，包括难治性癫痫和全面发育迟缓，并在一项纵向临床研究中进行了随访。
Zotero 插件