Ultrastructural Abnormalities in Induced Pluripotent Stem Cell-Derived Neural Stem Cells and Neurons of Two Cohen Syndrome Patients

Ultrastructural Abnormalities in Induced Pluripotent Stem Cell-Derived Neural Stem Cells and Neurons of Two Cohen Syndrome Patients

Cohen syndrome is an autosomal recessive disorder caused by <i>VPS13B</i> (<i>COH1</i>) gene mutations. This syndrome is significantly underdiagnosed and is characterized by intellectual disability, microcephaly, autistic symptoms, hypotension, myopia, retinal dystrophy, neut...

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Bibliographic Details
Main Authors: Tatiana A. Shnaider, Anna A. Khabarova, Ksenia N. Morozova, Anastasia M. Yunusova, Sophia A. Yakovleva, Anastasia S. Chvileva, Ekaterina R. Wolf, Elena V. Kiseleva, Elena V. Grigor’eva, Viktori Y. Voinova, Maria A. Lagarkova, Ekaterina A. Pomerantseva, Elizaveta V. Musatova, Alexander V. Smirnov, Anna V. Smirnova, Diana S. Stoklitskaya, Tatiana I. Arefieva, Daria A. Larina, Tatiana V. Nikitina, Inna E. Pristyazhnyuk
Format: Article
Language:English
Published: MDPI AG 2023-11-01
Series:Cells
Subjects:
Cohen syndrome
<i>VPS13B</i>
<i>COH1</i>
iPSCs
Golgi apparatus
ultrastructure
Online Access:https://www.mdpi.com/2073-4409/12/23/2702

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https://www.mdpi.com/2073-4409/12/23/2702

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