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

T. V. Nikitina, A. G. Menzorov, A. A. Kashevarova, M. M. Gridina, A. A. Khabarova, Yu S. Yakovleva, M. E. Lopatkina, I. E. Pristyazhnyuk, S. A. Vasilyev, O. L. Serov, I. N. Lebedev

Research output: Contribution to journalArticlepeer-review

4 Citations (Scopus)

Abstract

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.

Original languageEnglish
Pages (from-to)260-264
Number of pages5
JournalStem Cell Research
Volume33
DOIs
Publication statusPublished - 1 Dec 2018

Keywords

  • CULTURES
  • Skin/metabolism
  • Fibroblasts/metabolism
  • Humans
  • Chromosomes, Human, Pair 13
  • Induced Pluripotent Stem Cells/metabolism
  • Male
  • Mentally Disabled Persons
  • Aged
  • Ring Chromosomes

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