Generation of two iPSC lines from healthy donor with a heterozygous mutation in the VPS13B gene

S A Chechetkina; A A Khabarova; A S Chvileva; O M Kurchenko; A V Smirnov; A M Yunusova; I N Kotov; E V Musatova; E A Pomerantseva; E A Volovikov; M A Lagarkova; T A Shnaider; I E Pristyazhnyuk

doi:10.1016/j.scr.2021.102648

Generation of two iPSC lines from healthy donor with a heterozygous mutation in the VPS13B gene

Stem Cell Res. 2022 Mar:59:102648. doi: 10.1016/j.scr.2021.102648. Epub 2021 Dec 28.

Authors

Affiliations

¹ Novosibirsk State University, Novosibirsk, Russia. Electronic address: s.tschetschetkina@gmail.com.
² Institute of Cytology and Genetics, SB RAS, Novosibirsk, Russia.
³ Novosibirsk State University, Novosibirsk, Russia.
⁴ Center of Genetics and Reproductive Medicine GENETICO, JSC, Moscow, Russia.
⁵ Federal Research and Clinical Center of Physical-Chemical Medicine of Federal Medical Biological Agency, Moscow, Russia; Center for Precision Genome Editing and Genetic Technologies for Biomedicine, Federal Research and Clinical Center of Physical-Chemical Medicine of Federal Medical Biological Agency, Moscow, Russia.
⁶ Federal Research and Clinical Center of Physical-Chemical Medicine of Federal Medical Biological Agency, Moscow, Russia; Center for Precision Genome Editing and Genetic Technologies for Biomedicine, Federal Research and Clinical Center of Physical-Chemical Medicine of Federal Medical Biological Agency, Moscow, Russia; Lomonosov Moscow State University, Moscow, Russia.

PMID: 35026660
DOI: 10.1016/j.scr.2021.102648

Abstract

The human induced pluripotent stem cell (iPSC) lines, iCS-MAF1-1 and iCS-MAF1-11, were generated from fibroblasts. The donor has a heterozygous mutation in the VPS13B gene, which manifests in her child as Cohen syndrome. It is a Golgi pathology, characterized by postnatal microcephaly and delayed growth and mental development. However, the process underlying pathological changes leading to the onset of the disease is still unknown. The use of iPSC will allow describing the early stages of neurogenesis, which is undoubtedly relevant for identifying key stages of development, at which phenotypic manifestations of mutations in the VPS13B gene are found.