| Autor: |
Lieke Dillen, Neelam Fatima, Marina P. Hommersom, Ece Çepni, Fareeha Fatima, Ellen van Beusekom, Silvia Albert, Johanna M. van Hagen, Bert B.A. de Vries, Asma Ali Khan, Arjan P.M. de Brouwer, Hans van Bokhoven |
| Jazyk: |
angličtina |
| Rok vydání: |
2024 |
| Předmět: |
|
| Zdroj: |
Stem Cell Research, Vol 77, Iss , Pp 103442- (2024) |
| Druh dokumentu: |
article |
| ISSN: |
1873-5061 |
| DOI: |
10.1016/j.scr.2024.103442 |
| Popis: |
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. |
| Databáze: |
Directory of Open Access Journals |
| Externí odkaz: |
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