Generation of four iPSC lines from two siblings with a microdeletion at the CNTN6 gene and intellectual disability

T A Shnaider; I E Pristyazhnyuk; A G Menzorov; N M Matveeva; T V Nikitina; A A Khabarova; N A Skryabin; A A Kashevarova; M E Lopatkina; L P Nazarenko; I N Lebedev; O L Serov

doi:10.1016/j.scr.2019.101591

Generation of four iPSC lines from two siblings with a microdeletion at the CNTN6 gene and intellectual disability

Stem Cell Res. 2019 Dec:41:101591. doi: 10.1016/j.scr.2019.101591. Epub 2019 Oct 21.

Authors

Affiliations

¹ Institute of Cytology and Genetics, SB RAS, Novosibirsk, Russia. Electronic address: shnayder.t@yandex.ru.
² Institute of Cytology and Genetics, SB RAS, Novosibirsk, Russia.
³ Institute of Cytology and Genetics, SB RAS, Novosibirsk, Russia; Novosibirsk State University, Novosibirsk, Russia.
⁴ Research Institute of Medical Genetics, Tomsk NRMC, Tomsk, Russia.
⁵ Research Institute of Medical Genetics, Tomsk NRMC, Tomsk, Russia; Siberian State Medical University, Tomsk, Russia.

PMID: 31678775
DOI: 10.1016/j.scr.2019.101591

Abstract

The human induced pluripotent stem cell (iPSC) lines, ICGi009-A, ICGi009-B, ICGi013-A and ICGi013-B, were generated from skin fibroblasts of two siblings with intellectual disability. Both patients were carriers of CNTN6 gene microdeletion (Kashevarova et al., 2014). iPSC lines have normal karyotype, express pluripotency markers, are able to differentiate in vitro into derivatives of all three germ layers and represent a unique tool to study neurodevelopmental disorders.

Publication types

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

MeSH terms

Adolescent
Adult
Cell Differentiation*
Cells, Cultured
Contactins / genetics*
Female
Fibroblasts / metabolism
Fibroblasts / pathology*
Gene Deletion*
Humans
Induced Pluripotent Stem Cells / metabolism
Induced Pluripotent Stem Cells / pathology*
Intellectual Disability / genetics*
Intellectual Disability / pathology*
Male
Siblings
Young Adult

Substances

CNTN6 protein, human
Contactins