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

doi:10.1016/j.scr.2018.11.009

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

Stem Cell Res. 2018 Dec:33:260-264. doi: 10.1016/j.scr.2018.11.009. Epub 2018 Nov 20.

Authors

Affiliations

¹ Research Institute of Medical Genetics, Tomsk NRMC, Tomsk, Russia. Electronic address: t.nikitina@medgenetics.ru.
² Institute of Cytology and Genetics, SB RAS, Novosibirsk, Russia; Novosibirsk State University, Novosibirsk, Russia.
³ Research Institute of Medical Genetics, Tomsk NRMC, Tomsk, Russia.
⁴ Institute of Cytology and Genetics, SB RAS, Novosibirsk, Russia.
⁵ Research Institute of Medical Genetics, Tomsk NRMC, Tomsk, Russia; Siberian State Medical University, Tomsk, Russia.

PMID: 30500678
DOI: 10.1016/j.scr.2018.11.009

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.

Publication types

Case Reports
Research Support, Non-U.S. Gov't

MeSH terms

Aged
Chromosomes, Human, Pair 13
Fibroblasts / metabolism*
Humans
Induced Pluripotent Stem Cells / metabolism*
Male
Persons with Mental Disabilities
Ring Chromosomes
Skin / metabolism*

Supplementary concepts

Chromosome 13 ring