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

Stem Cell Research (Jun 2024)

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

Affiliations

Lieke Dillen: Department of Human Genetics, Donders Institute for Brain, Cognition, and Behaviour, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands
Neelam Fatima: Center of Excellence in Molecular Biology, University of Punjab, Lahore, Pakistan
Marina P. Hommersom: Department of Human Genetics, Donders Institute for Brain, Cognition, and Behaviour, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands
Ece Çepni: Institute of Health Sciences, Koç University, 34010 Istanbul, Turkey
Fareeha Fatima: Center of Excellence in Molecular Biology, University of Punjab, Lahore, Pakistan
Ellen van Beusekom: Department of Human Genetics, Donders Institute for Brain, Cognition, and Behaviour, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands
Silvia Albert: Department of Human Genetics, Donders Institute for Brain, Cognition, and Behaviour, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands
Johanna M. van Hagen: Department of Clinical Genetics, VU University Medical Center, Amsterdam, the Netherlands
Bert B.A. de Vries: Department of Human Genetics, Donders Institute for Brain, Cognition, and Behaviour, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands
Asma Ali Khan: Center of Excellence in Molecular Biology, University of Punjab, Lahore, Pakistan
Arjan P.M. de Brouwer: Department of Human Genetics, Donders Institute for Brain, Cognition, and Behaviour, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands
Hans van Bokhoven: 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; Corresponding author.

Journal volume & issue: Vol. 77
p. 103442

Abstract

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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.

Published in Stem Cell Research

ISSN: 1873-5061 (Print); 1876-7753 (Online)
Publisher: Elsevier
Country of publisher: Netherlands
LCC subjects: Science: Biology (General)
Website: https://www.journals.elsevier.com/stem-cell-research

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