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


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. Copyright © 2022 The Authors. Published by Elsevier B.V. All rights reserved.

Authors Chechetkina SA, Khabarova AA, Chvileva AS, Kurchenko OM, Smirnov AV, Yunusova AM, Kotov IN, Musatova EV, Pomerantseva EA, Volovikov EA, Lagarkova MA, Shnaider TA, Pristyazhnyuk IE
Journal Stem cell research
Publication Date 2022 Mar;59:102648
PubMed 35026660
DOI 10.1016/j.scr.2021.102648

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