Induced pluripotent stem cell line, IMGTi003-A, derived from skin fibroblasts of an intellectually disabled patient with ring chromosome 13


Skin fibroblasts from a patient with neurodevelopmental and speech delay, anxiety disorder, macrocephaly, microorchidism, multiple anomalies of internal organs and ring chromosome 13 were reprogrammed into induced pluripotent stem cells (iPSCs) to generate a clonal stem cell line IMGTi003-A (iTAF6-6). IMGTi003-A pluripotency was demonstrated by three germ layer differentiation capacity in vitro, and this cell line had a mosaic karyotype with 46,XY,r(13) as a predominant cell subpopulation. IMGTi003-A line is a good model for studying of the mitotic instability of the ring chromosome 13. Copyright © 2018 The Authors. Published by Elsevier B.V. All rights reserved.

Authors Nikitina TV, Menzorov AG, Kashevarova AA, Gridina MM, Khabarova AA, Yakovleva YS, Lopatkina ME, Pristyazhnyuk IE, Vasilyev SA, Serov OL, Lebedev IN
Journal Stem cell research
Publication Date 2018 Dec;33:260-264
PubMed 30500678
DOI 10.1016/j.scr.2018.11.009

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