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

Autor: 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
Jazyk: angličtina
Rok vydání: 2019
Předmět:
Zdroj: Stem Cell Research, Vol 41, Iss , Pp - (2019)
Druh dokumentu: article
ISSN: 1873-5061
DOI: 10.1016/j.scr.2019.101591
Popis: 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.
Databáze: Directory of Open Access Journals