Generation of induced pluripotent stem cell lines from two unrelated patients affected by intellectual disability carrying homozygous variants in SGIP1

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

doi:10.1016/j.scr.2024.103442

Generation of induced pluripotent stem cell lines from two unrelated patients affected by intellectual disability carrying homozygous variants in SGIP1

Stem Cell Res. 2024 May 9:77:103442. doi: 10.1016/j.scr.2024.103442. Online ahead of print.

Affiliations

¹ Department of Human Genetics, Donders Institute for Brain, Cognition, and Behaviour, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands.
² Center of Excellence in Molecular Biology, University of Punjab, Lahore, Pakistan.
³ Department of Human Genetics, Donders Institute for Brain, Cognition, and Behaviour, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands. Electronic address: marina.hommersom@radboudumc.nl.
⁴ Institute of Health Sciences, Koç University, 34010 Istanbul, Turkey.
⁵ Department of Clinical Genetics, VU University Medical Center, Amsterdam, the Netherlands.
⁶ Department of Human Genetics, Donders Institute for Brain, Cognition, and Behaviour, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands; Department of Cognitive Neuroscience, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, 6500 HB Nijmegen, Netherlands. Electronic address: hans.vanbokhoven@radboudumc.nl.

PMID: 38739972
DOI: 10.1016/j.scr.2024.103442

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.