The retinal pigment epithelial cell line (ARPE-19) displays mosaic structural chromosomal aberrations
Abstract
The retinal pigment epithelial cell line ARPE-19 was established in 1996 and remains widely used today for biomedical and in particular ophthalmology research. We have analyzed the chromosomes of the ARPE-19 cell line and found cultured cells exist as a heterogeneous mixture having both normal karyotypes and chromosomal rearrangements. In ARPE-19 cells, we observed metaphases with a single translocation t(15;19) and metaphases with two translocations t(5;15) and t(15;19) and a derivative chromosome 9. Aneuploidies have also been detected (monosomy: -16; trisomy: +11, +18). Multiple attempts to isolate clones with a normal karyotype from those with aberrant karyotypes failed due to senescence of cells of normal karyotypes. We could, however, isolate clones with the translocation t(15;19) and clones with two translocations t(5;15) and t(15;19). In continued cell culture after second subcloning for 30 passages, all clones maintained their cytogenetic integrity.We have further investigated the chromosomal profiles of the ARPE-19 cell line from another laboratory and observed cells with a normal karyotype as well as abnormalities in chromosomes 6p and 11q. The DNA profiles of the ARPE-19 cells from both labs were identical to the ATCC profiles, excluding contamination with other cell lines. Since chromosomal translocations in ARPE-19 cells differ from lab to lab and display a mosaicism for structural chromosomal aberrations, researchers dealing with ARPE-19 cells should screen their stocks for chromosomal aberrations and proceed with caution against misinterpretations during experimental manipulations with this cell line. This chapter describes in detail our laboratory methods for single cell cloning, karyotype analysis and fluorescence in situ hybridization (FISH), which we used for the identification and characterization of chromosomal translocations in the retinal pigment epithelial cell line ARPE-19.
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ARPE-19 and D407 lines have genetic abnormalities, with triploidy in D407 and an abnormal karyotype in ARPE-19.
“However, these cell lines have genetic abnormalities, with triploidy in the D407 line (Davis et al., 1995), and an abnormal karyotype (most notably, a loss of one copy of chromosome 15, and an unbalanced translocation between the chromosome 15q and 19q) in the ARPE-19 line (Fasler-Kan et al., 2018; Hazim et al., 2019).”
From The cell biology of the retinal pigment epithelium (2020) · cites this paper as Fasler-Kan et al., 2018
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- Authors
- Fasler-Kan, E., Aliu, N., Wunderlich, K., Ketterer, S., Ruggiero, S., Berger, S., & Meyer, P.
- Affiliations
- University Hospital of Bern (CH)
- University of Basel (CH)
- University of Bern (CH)
- Venue
- Methods in molecular biology
- Publisher
- Springer New York
- Published
- 2018
- Volume
- 1745
- Pages
- 305-314
- ISSN
- 1064-3745 (ISSN-L)
- 1940-6029
- OpenAlex
- W2790130444
- Cited by
- 20
- References
- 13
- Citations by year
- 2026: 1 · 2025: 5 · 2024: 4 · 2023: 2 · 2022: 2 · 2021: 1 · 2020: 3 · 2019: 1 · 2018: 1
- FWCI
- 4.82
- Type
- book chapter
- Language
- en
- Open access
- closed
- Locations
- Methods in molecular biology (publishedVersion)
- PubMed (publishedVersion)
- BORIS (University Library Bern) (submittedVersion)
- Funders
- Northwestern University
- Universität Basel
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomic variations and chromosomal abnormalities
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Retinal Development and Disorders
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Cell Biology › Microtubule and mitosis dynamics
- Keywords
- retinal pigment epithelium, chromosomal translocation, chromosomal mosaicism, karyotype heterogeneity, aneuploidy, cell line contamination, fluorescence in situ hybridization, single-cell cloning
- MeSH terms
- Cell Line, Chromosome Aberrations, Epithelial Cells, Humans, Mosaicism, Translocation, Genetic, In Situ Hybridization, Fluorescence, Retinal Pigment Epithelium, Single-Cell Analysis, Karyotype
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