Generation of induced pluripotent stem cell lines from two unrelated patients affected by intellectual disability carrying homozygous variants in SGIP1.
Stem Cell Res
; 77: 103442, 2024 Jun.
Article
em En
| MEDLINE
| ID: mdl-38739972
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.
Texto completo:
1
Bases de dados:
MEDLINE
Assunto principal:
Células-Tronco Pluripotentes Induzidas
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Homozigoto
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Deficiência Intelectual
Limite:
Child
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Female
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Humans
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Male
Idioma:
En
Revista:
Stem Cell Res
Ano de publicação:
2024
Tipo de documento:
Article
País de afiliação:
Holanda