Publication: Generation of induced pluripotent stem cell lines from two unrelated patients affected by intellectual disability carrying homozygous variants in SGIP1
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Dillen, Lieke
Fatima, Neelam
Hommersom, Marina P.
Fatima, Fareeha
van Beusekom, Ellen
Albert, Silvia
Hagen, Johanna M. van
Vries, Bert B. A. de
Khan, Asma Ali
Brouwer, Arjan P. M. de
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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.
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Elsevier
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Stem Cell Research
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DOI
10.1016/j.scr.2024.103442