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. Copyright © 2023 The Authors. Published by Elsevier B.V. All rights reserved.

Authors Takasaki K, Kumar SS, Gagne A, French DL, Chou ST
Journal Stem cell research
Publication Date 2023 Jun;69:103098
PubMed 37084616
PubMed Central PMC10576909
DOI 10.1016/j.scr.2023.103098

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