Generation of Three iPSC Lines from Fibroblasts of a Patient with Cohen Syndrome

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发表日期：

2024年6月1日

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I. E. Pristyazhnyuk,
J. M. Minina,
V. Y. Voinova,
M. P. Safonova,
M. A. Lagarkova,
A. V. Davidenko,
E. A. Volovikov,
A. G. Menzorov

摘要

Abstract

Cohen syndrome is a rare autosomal recessive genetic disorder characterized by developmental delay, intellectual disability, microcephaly, neutropenia, dysmorphism, obesity, and ophthalmological and autistic spectrum disorders. It is caused by homozygous or compound heterozygous variants in the VPS13B gene. We produced three induced pluripotent stem cell (iPSC) lines from the fibroblasts of a Cohen syndrome patient that had VPS13B gene compound heterozygous variants with unknown clinical significance. The iPSC lines had a normal karyotype, expressed pluripotency markers, and markers of all three germ layers upon differentiation in embryoid bodies. A study of unknown variants may clarify the functions of the VPS13B gene as well as the functional roles of its domains.