Generation of the induced pluripotent stem cell line, ICAGi002-A, from unaffected carrier megabase scaled duplication involving the CNTN6 gene
Summary
The 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. Copyright © 2019 The Authors. Published by Elsevier B.V. All rights reserved.
| Authors | Gridina MM, Nikitina TV, Pristyazhnyuk IE, Kashevarova AA, Lopatkina ME, Vasilyev SA, Nazarenko LP, Lebedev IN, Serov OL |
|---|---|
| Journal | Stem cell research |
| Publication Date | 2019 Oct;40:101556 |
| PubMed | 31518906 |
| DOI | 10.1016/j.scr.2019.101556 |