Generation of iPSC line ICGi024-A from human skin fibroblasts of a patient with ring chromosome 18

A A Khabarova; I E Pristyazhnyuk; P A Orlova; T V Nikitina; A A Kashevarova; M E Lopatkina; E O Belyaeva; N N Sukhanova; L P Nazarenko; I N Lebedev; O L Serov

doi:10.1016/j.scr.2020.102076

Generation of iPSC line ICGi024-A from human skin fibroblasts of a patient with ring chromosome 18

Stem Cell Res. 2020 Dec:49:102076. doi: 10.1016/j.scr.2020.102076. Epub 2020 Nov 3.

Authors

Affiliations

¹ Institute of Cytology and Genetics, SB RAS, Novosibirsk, Russia. Electronic address: [email protected].
² Institute of Cytology and Genetics, SB RAS, Novosibirsk, Russia.
³ Research Institute of Medical Genetics, Tomsk NRMC, Tomsk, Russia.
⁴ Research Institute of Medical Genetics, Tomsk NRMC, Tomsk, Russia; Siberian State Medical University, Tomsk, Russia.

PMID: 33212351
DOI: 10.1016/j.scr.2020.102076

Abstract

Ring chromosome 18 is a rare chromosomal disorders that usually originate de novo and correlate with clinical manifestation: developmental delay as well as microcephaly, brain and ocular malformations, hypotonia and skeletal abnormalities. We generate iPSC clonal cell line ICGi024-A with pluripotency properties which were demonstrated in vitro by three germ layer differentiation capacity. ICGi024-A can be used for disease modeling and fundamental investigation of ring chromosome instability.

Publication types

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

MeSH terms

Cell Line
Chromosomes, Human, Pair 18
Fibroblasts
Humans
Induced Pluripotent Stem Cells*
Ring Chromosomes*

Supplementary concepts

Chromosome 18 ring