Genome-wide comparison of trisomy 21 iPSCs and derived isogenic disomy 21 iPSCs.

ABSTRACT: Human trisomies can alter cellular phenotypes and produce congenital abnormalities such as Down Syndrome (DS). Here we have generated induced pluripotent stem cells (iPSCs) from DS fibroblasts, and introduced a TKNEO transgene into one copy of chromosome 21 by gene targeting. When selecting against TKNEO, spontaneous chromosome loss was the most common cause for survival, with a frequency of ~10-4, while point mutations, epigenetic silencing, and TKNEO deletions occurred at lower frequencies in this unbiased comparison of inactivating mutations. Mitotic recombination events resulting in extended loss of heterozygosity were not observed in DS iPSCs. The disomic cells that we derived proliferated faster and produced more endothelia in vivo than their otherwise isogenic trisomic counterpa

ORGANISM(S): Homo sapiens

SUBMITTER: LI LI 

PROVIDER: E-GEOD-38931 | biostudies-arrayexpress |

REPOSITORIES: biostudies-arrayexpress