Publication: Generation of induced pluripotent stem cell lines from two unrelated patients affected by intellectual disability carrying homozygous variants in SGIP1
Program
KU-Authors
KU Authors
Co-Authors
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
Advisor
Publication Date
2024
Language
en
Type
Journal article
Journal Title
Journal ISSN
Volume Title
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.
Description
Source:
Stem Cell Research
Publisher:
Elsevier
Keywords:
Subject
Cell and tissue engineering, Biotechnology & applied microbiology, Cell biology