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
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.
Authors
- Himanshi Kapoor (ORCID: https://orcid.org/0000-0003-2641-8395)
- Achal Kumar Srivastava (ORCID: https://orcid.org/0000-0002-4590-7947)
- Istaq Ahmad (ORCID: https://orcid.org/0000-0001-8201-0381)
- Mohammed Faruq (ORCID: https://orcid.org/0000-0001-8278-8396)
Institutions
- Institute of Genomics and Integrative Biology (IN)
- All India Institute of Medical Sciences (IN)
- Academy of Scientific and Innovative Research (IN)
Publication Details
- Journal
- Stem Cell Research
- Published
- 2024-08-05
- DOI
- https://doi.org/10.1016/j.scr.2024.103520
- Primary Topic
- Pluripotent Stem Cells Research
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- Indian Council of Medical Research
- Council of Scientific and Industrial Research, India