| Autor: |
Neelam Fatima, Lieke Dillen, Marina P. Hommersom, Ece Çepni, Fareeha Fatima, Ellen van Beusekom, Silvia Albert, Asma Ali Khan, Arjan P.M. de Brouwer, Hans van Bokhoven |
| Jazyk: |
angličtina |
| Rok vydání: |
2024 |
| Předmět: |
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| Zdroj: |
Stem Cell Research, Vol 80, Iss , Pp 103511- (2024) |
| Druh dokumentu: |
article |
| ISSN: |
1873-5061 |
| DOI: |
10.1016/j.scr.2024.103511 |
| Popis: |
SGIP1 encodes a protein Src homology 3-domain growth factor receptor-bound 2-like endophilin interacting protein 1. It is involved in the regulation of clathrin-mediated endocytosis along with having a role in energy homeostasis in neuronal systems. We generated an isogenic human induced pluripotent stem cell (iPSC) line with a biallelic frameshift variant in SGIP1. This exon has been shown to be subject to alternative splicing, leading to an isoform lacking 24 amino acids that are present in the longest SGIP isoform. The newly generated iPSC line will be helpful to dissect the differential properties of the two SGIP isoforms. |
| Databáze: |
Directory of Open Access Journals |
| Externí odkaz: |
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