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从两名携带 SGIP1 同源变异的智力障碍患者中诱导产生多能干细胞系。

Generation of induced pluripotent stem cell lines from two unrelated patients affected by intellectual disability carrying homozygous variants in SGIP1.

机构信息

Department of Human Genetics, Donders Institute for Brain, Cognition, and Behaviour, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands.

Center of Excellence in Molecular Biology, University of Punjab, Lahore, Pakistan.

出版信息

Stem Cell Res. 2024 Jun;77:103442. doi: 10.1016/j.scr.2024.103442. Epub 2024 May 9.

DOI:10.1016/j.scr.2024.103442
PMID:38739972
Abstract

Intellectual disability (ID) is a diverse neurodevelopmental condition and almost half of the cases have a genetic etiology. SGIP1 acts as an endocytic protein that influences the signaling of receptors in neuronal systems related to energy homeostasis through its interaction with endophilins. This study focuses on the generation and characterization of induced pluripotent stem cells (iPSC) from two unrelated patients due to a frameshift variant (c.764dupA, NM_032291.4) and a splice donor site variant (c.74 + 1G > A, NM_032291.4) in the SGIP1 gene.

摘要

智力障碍（ID）是一种多种神经发育状况，近半数病例具有遗传病因。SGIP1 作为一种内吞蛋白，通过与内附蛋白相互作用，影响与能量平衡相关的神经元系统中受体的信号转导。本研究专注于生成和鉴定两个无关患者的诱导多能干细胞（iPSC），这两个患者的 SGIP1 基因分别存在移码变异（c.764dupA，NM_032291.4）和剪接供体位点变异（c.74+1G>A，NM_032291.4）。

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