Chromosome rearrangements in sublines of human embryonic stem cell lines hESM01 and hESM03

Abstract

Due to possible proliferative effects of karyotypic reorganization of human embryonic stem cell (hESC) lines detailed genetic analysis are indicated prior to any application of hESCs. Molecular cytogenetic analysis of two different hESC sublines was performed and revealed aberrant chromosomes in both of them, i.e. in hESM01r18 (46,ХХ,-18,+mar) and hESM0309 (46,ХХ,del(4),dup (9)). This study shows that microdissection and multicolor fl uorescence in situ hybridization (mFISH) can be used to detect the chromosomal changes precisely of the derivative chromosomes that are diffi cult to identify by conventional G-banded chromosome analysis. In the present study chromosome microdissection and reverse FISH were applied using multicolor fl uorescence in situ hybridization (mFISH) for detailed characterization of the derivative chromosomes. The karyotypes of hESC lines were described as: 46,ХХ,r(18)(::p11.31→q21.2::q21.2→p11.31::) and 46,XX,del(4)(q25q31.1),dup(9) (q12q33), respectively. The potential role of the chromosomal regions involved in rearrangements for cell proliferation is discussed.

Complex biology of constitutional ring chromosomes structure and (in)stability revealed by somatic cell reprogramming

“… 21 did not find r(17) in iPSC metaphases may be associated with the localization of the antiapoptotic BIRC5 gene, which provides a proliferative advantage, in the 17q25 region 48 , 49 such that ring instability or monosomy 17 may compromise the ability of pluripotent cells to divide more strongly than for other rings (r(13), r(18), and r(22)). Ring chromosome 18, which appeared in the ESC subline hESM01r18, was also quite stable 50 . The size of the chromosome.…”

Human pluripotent stem-cell-derived cardiomyocytes in cardiovascular drug discovery and development

“…It has been suggested that hESCs should be molecular cytogenetically characterised in an attempt to understand tumour initiation and progression. [31]. Likewise, incomplete reprogramming of hiPSCs from somatic cells is an additional hurdle.…”