Accepted_test

Generation of three iPSC lines from fibroblasts of a patient with Cohen syndrome
by Pristyazhnyuk Inna | Minina Julia | Voinova Viktoria | Safonova Manushak | Lagarkova Maria | Menzorov Aleksei | Institute of Cytology and Genetics SB RAS, Novosibirsk, Russia | Institute of Cytology and Genetics SB RAS, Novosibirsk, Russia | 2Veltischev Research and Clinical Institute for Pediatrics and Pediatric Surgery of the Pirogov Russian National Research Medical University, Moscow, Russia | The Mental Health Research Center, Moscow, Russia | Lopukhin Federal Research and Clinical Center of Physical-Chemical Medicine of Federal Medical Biological Agency, Moscow, Russia | Institute of Cytology and Genetics SB RAS, Novosibirsk, Russia
Abstract ID: 217
Event: BGRS-abstracts
Sections: [Sym 4] Section “Human medical genomics/genetics”

Cohen syndrome is a rare autosomal recessive genetic disorder characterized by developmental delay, intellectual disability, microcephaly, neutropenia, dimorphisms, obesity, and ophthalmological and autistic spectrum disorders. It is caused by homozygous or compound heterozygous variants in VPA13B gene. Previously we generated Cohen syndrome patient-specific induced pluripotent stem cells (iPSCs). The iPSC-derived neural stem cells and neurons had numerous ultrastructural abnormalities. In this study, we produced iPSCs from fibroblasts of another Cohen patient that had VPS13B gene compound heterozygous variants with unknown clinical significance. A study of unknown variants may clarify the functions of VPS13B as well as the functional roles of its domains.

The cell lines iCS-MCF3-1, iCS-MCF3-3, and iCS-MCF3-5 had normal karyotypes and expressed pluripotency markers OCT4, NANOG, and SSEA-4. Pluripotency was shown by analysis of embryoid bodies; they expressed gene markers of all three germ layers.

These iPSC lines could be used for the study of VPS13B functions and the impact of its variants on the cell function.