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Series GSE75089 Query DataSets for GSE75089
Status Public on May 01, 2016
Title Segmental chromosomal imbalances arise at high frequency in human fibroblasts (SB)
Organism Homo sapiens
Experiment type SNP genotyping by SNP array
Summary Preservation of chromosome integrity is key for the survival of any organism. To assure segregation of intact chromosomes, cell division is presumed to be under strict control of cell-cycle checkpoints. Estimates of chromosomal mutation rates per generation based on cytogenetic analyses of newborns and products of conception, range between 4.57x10-5 and 3.42x10-4. In contrast, the high incidence of segmental imbalances detected by single-cell genome-wide copy number profiling indicates that the error rate per cell division might be more than an order of magnitude higher. To directly measure the de novo incidence of segmental chromosomal imbalances, we plated a single fibroblast and analyzed the genomes of the two sister cells following a single cell division. Analysis of 89 pairs of sister cells (178 single cells in total) from 5 different cell lines revealed megabase-sized chromosomal imbalances in 21 fibroblasts, 14 of which derived from 7 mitoses with complementary segmental aneuploidies in the two daughter cells. The mutation rate of segmental imbalances is thus at least 7.9%, indicating that compared to the per generation chromosome stability is at least 100 times lower in vitro and likely underestimated in vivo.
Overall design Here we provide a sample set including a series of MDA whole genome amplified fibroblasts 'SB' isolated from a fresh skin biopsy of a phenotypically normal individual and genomic DNA samples isolated from peripheral blood of a sibling 'SB_Sibling', the mother 'SB_Mother' and father 'SB_Father'. Single cells were amplified using GenomiphiV2 (GE Healthcare).
Contributor(s) Dimitriadou E, Esteki MZ, Voet T, Vermeesch JR
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Submission date Nov 17, 2015
Last update date Dec 18, 2017
Contact name Eftychia Dimitriadou
Organization name KU Leuven
Lab Cytogenetics and Genome Research
Street address Herestraat 49, ON1, bus 602
City Leuven
ZIP/Postal code 3000
Country Belgium
Platforms (1)
GPL13829 Illumina HumanCytoSNP-12 v2.1 BeadChip
Samples (3)
GSM1942481 WB_SB_Sibling_MC
GSM1942482 WB_SB_Father_MC
GSM1942483 WB_SB_Mother_MC
This SubSeries is part of SuperSeries:
GSE75116 Segmental chromosomal imbalances arise at high frequency in human fibroblasts
BioProject PRJNA302483

Download family Format
SOFT formatted family file(s) SOFTHelp
MINiML formatted family file(s) MINiMLHelp
Series Matrix File(s) TXTHelp

Supplementary file Size Download File type/resource
GSE75089_RAW.tar 11.9 Mb (http)(custom) TAR (of IDAT)
GSE75089_SignalIntensities_SB_genomic_Dimitriadou.txt.gz 12.9 Mb (ftp)(http) TXT
Processed data included within Sample table

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