Characteristic karyotype abnormalities including Robertsonian translocations found in eight mouse embryonic stem cell lines

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In the course of the chromosome analyses of mouse embryonic stem (ES) cell lines in 2004 and 2005 in Japan, we found characteristic karyotype abnormalities in eight ES cell lines obtained from one institute. The modal chromosome number was 42 in three cell lines, 41 in two, and 43 in one. One of the remaining two cell lines showed bi-modal chromosomal numbers with 41 and 42 chromosomes, and the other showed tri-modal chromosomal numbers with 41, 42, and 43 chromosomes. No cell line had the normal diploid number of 40 as the modal chromosomal number. A total of 77 metaphases from eight ES cell lines (6 to 14 metaphases per line) were analyzed using the Q-banding technique, and all of them had chromosome abnormalities, except for one with a normal chromosome constitution (40, XY). Of 77 metaphases, 70 (91%) showed a Robertsonian (Rb) translocation of chromosome 8 (Rb (8.8)) resulting in trisomy or tetrasomy of chromosome 8. In addition, trisomy of chromosome 1 or trisomy of chromosome 14 was commonly observed, and Rb (1.14) and Rb (1.Y) resulting in trisomy 1 or trisomy 14 also contributed to abnormal karyotypes in these cell lines. Speculation on how abnormal karyotypes progressed in the present eight ES cell lines is presented.
財団法人染色体学会の論文