open access
Genomic landscape of human erythroleukemia K562 cell line, as determined by next-generation sequencing and cytogenetics
Affiliations- Department of Immunology, Center of Biostructure Research, Medical University of Warsaw, Poland
- Postgraduate School of Molecular Medicine, Warsaw, Poland
- Department of Diagnostic Hematology, Institute of Hematology and Transfusion Medicine, Warsaw, Poland
- Department of Medical Genetics, Medical University of Warsaw, Poland
- Department of Genetics, Institute of Physiology and Pathology of Hearing, Kajetany/Warsaw, Poland
open access
Abstract
We have performed detailed analysis of the genomic landscape of commercially available K562 cells, employing targeted enrichment of nearly 1300 cancer-related genes followed by next-generation sequencing (NGS) and also classical cytogenetics. Deep sequencing revealed 88 variants of potentially biological significance. Among them we have detected alterations in genes already known to be mutated in K562, such as TP53 but also in several other genes, which are implicated in tumorigenesis and drug resistance, such as MLH1, ASXL1 and BRCA1 as the most prominent examples. Fluorescence in situ hybridization (FISH) of interphases of K562 cells revealed multiplication of the BCR and ABL1 gene copies, as well as the amplification of the BCR-ABL1 fusion gene. Our results may help to better understand genomic instability of the blastic phase of CML represented by the K562 cell line and can help researchers who want to employ this cell line in various experimental settings.
Abstract
We have performed detailed analysis of the genomic landscape of commercially available K562 cells, employing targeted enrichment of nearly 1300 cancer-related genes followed by next-generation sequencing (NGS) and also classical cytogenetics. Deep sequencing revealed 88 variants of potentially biological significance. Among them we have detected alterations in genes already known to be mutated in K562, such as TP53 but also in several other genes, which are implicated in tumorigenesis and drug resistance, such as MLH1, ASXL1 and BRCA1 as the most prominent examples. Fluorescence in situ hybridization (FISH) of interphases of K562 cells revealed multiplication of the BCR and ABL1 gene copies, as well as the amplification of the BCR-ABL1 fusion gene. Our results may help to better understand genomic instability of the blastic phase of CML represented by the K562 cell line and can help researchers who want to employ this cell line in various experimental settings.
Keywords
Chronic myeloid leukemia; K562; Human erythroleukemia; Next-generation sequencing; Genomic instability
About this articleTitle
Genomic landscape of human erythroleukemia K562 cell line, as determined by next-generation sequencing and cytogenetics
Journal
Issue
Pages
343-349
Published online
2017-10-01
DOI
10.1016/j.achaem.2017.06.002
Bibliographic record
Acta Haematol Pol 2017;48(4):343-349.
Keywords
Chronic myeloid leukemia
K562
Human erythroleukemia
Next-generation sequencing
Genomic instability
Authors
Małgorzata Kurkowiak
Monika Pępek
Marcin M. Machnicki
Iwona Solarska
Katarzyna Borg
Małgorzata Rydzanicz
Piotr Stawiński
Rafał Płoski
Tomasz Stokłosa