Stem cell research · 2021
Generation of two iPSC lines from healthy donor with a heterozygous mutation in the VPS13B gene.
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Chechetkina S A, Khabarova A A, Chvileva A S, Kurchenko O M, Smirnov A V, Yunusova A M, Kotov I N, Musatova E V, Pomerantseva E A, Volovikov E A, Lagarkova M A, Shnaider T A, Pristyazhnyuk I E
Аннотация
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.