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

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 Serov

doi:10.1016/j.scr.2019.101556

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

Stem Cell Res. 2019 Oct:40:101556. doi: 10.1016/j.scr.2019.101556. Epub 2019 Aug 28.

Authors

M M Gridina¹, T V Nikitina², I E Pristyazhnyuk³, A A Kashevarova², M E Lopatkina², S A Vasilyev², L P Nazarenko⁴, I N Lebedev⁴, O L Serov³

Affiliations

¹ Institute of Cytology and Genetics, SB RAS, Novosibirsk, Russia. Electronic address: gridinam@gmail.com.
² Research Institute of Medical Genetics, Tomsk NRMC, Tomsk, Russia.
³ Institute of Cytology and Genetics, SB RAS, Novosibirsk, Russia.
⁴ Research Institute of Medical Genetics, Tomsk NRMC, Tomsk, Russia; Siberian State Medical University, Tomsk, Russia.

PMID: 31518906
DOI: 10.1016/j.scr.2019.101556

Abstract

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.

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Adult
Cell Differentiation
Cell Line / cytology*
Cell Line / metabolism
Cellular Reprogramming
Contactins / genetics*
Contactins / metabolism
DNA Copy Number Variations
Fibroblasts / cytology
Fibroblasts / metabolism
Gene Duplication
Humans
Induced Pluripotent Stem Cells / cytology*
Induced Pluripotent Stem Cells / metabolism
Intellectual Disability / genetics*
Intellectual Disability / metabolism
Intellectual Disability / physiopathology
Male

Substances

CNTN6 protein, human
Contactins