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High-Resolution Analysis of the Subtelomeric Regions of Human Embryonic Stem Cells

^a Department of Clinical Genetics, Sahlgrenska University Hospital/East, Göteborg, Sweden;
^b Cellartis AB, Göteborg, Sweden

Key Words. Human embryonic stem cells • Chromosomes • Multiplex ligation-dependent probe amplification analysis • Subtelomeric regions

Correspondence: Peter Sartipy, Ph.D., Cellartis AB, Arvid Wallgrens Backe 20, 41346 Göteborg, Sweden. Telephone: 46-31-7580930; Fax: 46-31-7580910; e-mail: peter.sartipy{at}cellartis.com; and Catarina Darnfors, Ph.D., Department of Clinical Genetics, Sahlgrenska University Hospital/East, 416 #85 Göteborg, Sweden. Telephone: 46-31-3434123; Fax: 46-31-842160; e-mail: catarina.darnfors{at}vgregion.se

The use of human embryonic stem cells (hESCs) in most applications is dependent on their undifferentiated proliferation in vitro. Recent studies have illustrated the possibility that chromosomal changes may occur in hESCs during in vitro propagation of these cells. However, no studies so far have screened for chromosomal abnormalities in hESCs using high-resolution techniques that can detect alterations on a few base-pair levels. We have used the recently developed multiplex ligation-dependent probe amplification procedure to analyze the possible occurrence of deletions or duplications in the subtelomeric regions of hESCs in early and late passages. In this study we show that no subtelomeric anomalies were detected in any of the nine hESC lines investigated, supporting the conclusion that hESCs, under appropriate conditions, maintain genomic stability during in vitro propagation.

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