PMID- 35741774 OWN - NLM STAT- MEDLINE DCOM- 20220627 LR - 20220924 IS - 2073-4425 (Electronic) IS - 2073-4425 (Linking) VI - 13 IP - 6 DP - 2022 Jun 3 TI - Molecular Cytogenetics Reveals Mosaicism in Human Umbilical Vein Endothelial Cells. LID - 10.3390/genes13061012 [doi] LID - 1012 AB - Primary human umbilical vein endothelial cells (HUVECs) are consistently the most reliable in vitro model system for studying the inner lining of blood and lymphatic vessels or the endothelium. Primary human cells originate from freshly isolated tissues without genetic manipulation and generally show a modal number of 46 chromosomes with no structural alterations, at least during early passages. We investigated the cytogenetic integrity of HUVECs with conventional (G-banding) and molecular cytogenetic methods (spectral karyotyping (SKY) and fluorescence in situ hybridization (FISH)). Our G-band data shows two X-chromosomes, confirming these HUVECs originate from a female donor. Notably, some cells consistently exhibit an unfamiliar banding pattern on one X chromosome toward the distal end of the long arm (Xq). Our FISH analysis confirms that approximately 50% of these HUVECs have a deletion of the Xq terminal region. SKY analysis indicates that the deleted region is apparently not integrated into any other chromosome. Finally, we demonstrated the presence of a similar Xq deletion in the daughter cell line, EA.hy926, which was generated by fusing HUVECs with A549 (a thioguanine-resistant clone of adenocarcinomic human alveolar basal epithelial cells). These findings will advance comprehension of HUVECs biology and will augment future endothelial studies. FAU - Binz, Regina L AU - Binz RL AUID- ORCID: 0000-0002-4689-3073 AD - Division of Radiation Health, Department of Pharmaceutical Sciences, College of Pharmacy, University of Arkansas for Medical Sciences, Little Rock, AR 72205, USA. FAU - Pathak, Rupak AU - Pathak R AUID- ORCID: 0000-0002-6239-301X AD - Division of Radiation Health, Department of Pharmaceutical Sciences, College of Pharmacy, University of Arkansas for Medical Sciences, Little Rock, AR 72205, USA. LA - eng GR - P20 GM109005/GM/NIGMS NIH HHS/United States PT - Journal Article PT - Research Support, N.I.H., Extramural DEP - 20220603 PL - Switzerland TA - Genes (Basel) JT - Genes JID - 101551097 SB - IM MH - Cytogenetics MH - Female MH - Human Umbilical Vein Endothelial Cells MH - Humans MH - In Situ Hybridization, Fluorescence/methods MH - Karyotyping MH - *Mosaicism PMC - PMC9222953 OTO - NOTNLM OT - G-banding OT - chromosomal aberrations OT - endothelial cells OT - fluorescence in situ hybridization OT - spectral karyotyping COIS- The authors declare no conflict of interest. EDAT- 2022/06/25 06:00 MHDA- 2022/06/28 06:00 PMCR- 2022/06/03 CRDT- 2022/06/24 01:13 PHST- 2022/05/09 00:00 [received] PHST- 2022/05/31 00:00 [revised] PHST- 2022/06/02 00:00 [accepted] PHST- 2022/06/24 01:13 [entrez] PHST- 2022/06/25 06:00 [pubmed] PHST- 2022/06/28 06:00 [medline] PHST- 2022/06/03 00:00 [pmc-release] AID - genes13061012 [pii] AID - genes-13-01012 [pii] AID - 10.3390/genes13061012 [doi] PST - epublish SO - Genes (Basel). 2022 Jun 3;13(6):1012. doi: 10.3390/genes13061012.