Stem Cell Research (Dec 2019)

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

Journal volume & issue
Vol. 41

Abstract

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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.