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

Dillen, Lieke; Fatima, Neelam; Hommersom, Marina P; Çepni, Ece; Fatima, Fareeha; van Beusekom, Ellen; Albert, Silvia; van Hagen, Johanna M; de Vries, Bert B A; Khan, Asma Ali; de Brouwer, Arjan P M; van Bokhoven, Hans

Dillen, Lieke; Fatima, Neelam; Hommersom, Marina P; Çepni, Ece; Fatima, Fareeha; van Beusekom, Ellen; Albert, Silvia; van Hagen, Johanna M; de Vries, Bert B A; Khan, Asma Ali; de Brouwer, Arjan P M; van Bokhoven, Hans.

Afiliação

Dillen L; Department of Human Genetics, Donders Institute for Brain, Cognition, and Behaviour, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands.
Fatima N; Center of Excellence in Molecular Biology, University of Punjab, Lahore, Pakistan.
Hommersom MP; 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.
Çepni E; Institute of Health Sciences, Koç University, 34010 Istanbul, Turkey.
Fatima F; Center of Excellence in Molecular Biology, University of Punjab, Lahore, Pakistan.
van Beusekom E; Department of Human Genetics, Donders Institute for Brain, Cognition, and Behaviour, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands.
Albert S; Department of Human Genetics, Donders Institute for Brain, Cognition, and Behaviour, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands.
van Hagen JM; Department of Clinical Genetics, VU University Medical Center, Amsterdam, the Netherlands.
de Vries BBA; Department of Human Genetics, Donders Institute for Brain, Cognition, and Behaviour, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands.
Khan AA; Center of Excellence in Molecular Biology, University of Punjab, Lahore, Pakistan.
de Brouwer APM; Department of Human Genetics, Donders Institute for Brain, Cognition, and Behaviour, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands.
van Bokhoven H; 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,

Stem Cell Res ; 77: 103442, 2024 Jun.

Article em En | MEDLINE | ID: mdl-38739972

ABSTRACT

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.

Assuntos

Homozigoto; Células-Tronco Pluripotentes Induzidas; Deficiência Intelectual; Humanos; Células-Tronco Pluripotentes Induzidas/metabolismo; Deficiência Intelectual/genética; Deficiência Intelectual/patologia; Masculino; Feminino; Linhagem Celular; Criança

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Texto completo: 1 Bases de dados: MEDLINE Assunto principal: Células-Tronco Pluripotentes Induzidas / Homozigoto / Deficiência Intelectual Limite: Child / Female / Humans / Male Idioma: En Revista: Stem Cell Res Ano de publicação: 2024 Tipo de documento: Article País de afiliação: Holanda

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