Generation and characterization of human-derived induced pluripotent stem cell line (IGIBi010-A) from a patient with neurodegenerative disease phenotype carrying mutation in SQSTM1/p62 gene

被引：0
|
作者：
Ahmad, Istaq [1 ,2 ]
Kapoor, Himanshi [1 ]
Srivastava, Achal Kumar [2 ]
Faruq, Mohammed [1 ,3 ]
机构：
[1] CSIR Inst Genom & Integrat Biol, Genom & Mol Med Div, New Delhi 110007, India
[2] All India Inst Med Sci, Dept Neurol, New Delhi 110029, India
[3] Acad Sci & Innovat Res AcSIR, Ghaziabad 201002, India
来源：
STEM CELL RESEARCH | 2024年 / 80卷
关键词：
D O I：
10.1016/j.scr.2024.103520
中图分类号：
Q813 [细胞工程];
学科分类号：
摘要：
SQSTM1 (Sequestosome 1) also known as p62, plays several important physiological roles in the cell. It regulates autophagy and mitochondrial homeostasis and can further lead to metabolic reprogramming. Pathogenic variants in SQSTM1 gene are known to cause Neurodegeneration with ataxia, dystonia, and gaze palsy in autosomal recessive inheritance fashion. We report here, the generation of induced pluripotent stem cell (iPSC) line (IGIBi010-A) carrying a novel homozygous frameshift variant in SQSTM1 i.e. p.Leu251SerfsTer4. In future, this iPSC line will be used as a resource to elucidate the molecular pathway, targeting strategies for disease biology derived by variation in SQSTM1 gene.
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页数：6
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