Induced pluripotent stem cell line, IMGTi003-A, derived from skin fibroblasts of an intellectually disabled patient with ring chromosome 13
Summary
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 |
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| Journal | Stem cell research |
| Publication Date | 2018 Dec;33:260-264 |
| PubMed | 30500678 |
| DOI | 10.1016/j.scr.2018.11.009 |