Generation of the induced pluripotent stem cell line, ICAGi002-A, from unaffected carrier megabase scaled duplication involving the CNTN6 gene

Publication date: Available online 28 August 2019Source: Stem Cell ResearchAuthor(s): M.M. Gridina, T.V. Nikitina, I.E. Pristyazhnyuk, A.A. Kashevarova, M.E. Lopatkina, S.A. Vasilyev, L.P. Nazarenko, I.N. Lebedev, O.L. SerovAbstractThe 3p26.3 microduplication involving the CNTN6 gene cause developmental delay and the intellectual disability. However, the incomplete penetrance is described for this copy number variation (CNV). Here we describe ICAGi002-A line, which is supposed to use as a model for studying of the penetrance of the CNV in 3p26.3. The ICAGi002-A iPSCs line was obtained by the reprogramming of the skin fibroblasts from a healthy donor with 3p26.3 microduplication involving the CNTN6 gene. The ICAGi002-A cells was pluripotent as it was shown by the expression of the pluripotency-associated markers and in vitro differentiation into the cells of three germ layers.
Source: Stem Cell Research - Category: Stem Cells Source Type: research