Down syndrome (Trisomy 21) disease-specific human embryonic stem cell (hESC) lines, UMICHe003-A/UM152-1, UMICHe004-A/UM202-1, and UMICHe005-A/UM229-1.

Down syndrome (DS), the chromosomal disorder caused by trisomy of chromosome 21 (Tri21), presents many neurological conditions, including intellectual disability (ID), autism spectrum disorder (ASD), epilepsy, and Alzheimer's disease (AD), and is the most common genetic cause of ID worldwide. Although some human chromosome 21 (HSA21) genes have been identified as key contributors to some of these pathologies, the mechanisms that link the triplication of HSA21 genes to most DS-related diseases remain largely unknown. To facilitate the discovery of HSA21 genes that underlie DS-related pathologies, we report here the establishment of three (3) female Tri21 disease-specific human embryonic stem cell (hESC) lines in the NIH hESC registry, UM152-1, UM202-1, and UM229-1. All three Tri21-hESC lines exhibit pluripotency, the ability to differentiate into three germ layers in vitro. These lines provide new human cellular models to study DS/Tri21 disease pathogenesis.