Generation of 2 isogenic clones from a patient with Trisomy 21 and a GATA1 mutation

Trisomy 21 (T21), or Down Syndrome (DS), is a common chromosomal disorder resulting from a third copy of chromosome 21 (HSA21). Transient myeloproliferative disorder (TMD) is a pre-leukemic condition that occurs only in neonates with DS and is characterized by a mutation in the transcription factor GATA1 that results in a truncated protein (GATA1s). We generated a pair of isogenic T21 lines derived from a patient with TMD that differ only in GATA1 status. The iPSC lines were characterized for pluripotency, differentiation potential, and genomic stability. These lines are a valuable resource for studying T21 hematopoietic diseases.

Automated summary

Trisomy 21 (T21), also known as Down Syndrome (DS), is a common chromosomal disorder caused by an extra copy of chromosome 21. Transient myeloproliferative disorder (TMD) is a pre-leukemic condition that specifically occurs in newborns with DS and is characterized by a mutation in the GATA1 transcription factor. We have generated a pair of isogenic T21 cell lines derived from a patient with TMD, with the only difference being the status of GATA1. These iPSC lines have been characterized for their pluripotency, differentiation potential, and genomic stability, making them a valuable resource for studying hematopoietic diseases associated with T21.