Generation of CHOPi-008-B, a euploid iPSC line from a patient with Trisomy 21 and a GATA1 mutation


Transient myeloproliferative disorder (TMD) is a pre-leukemic condition that occurs only in neonates with Trisomy 21 (T21), and is attributed to a genetic interaction between the third copy of chromosome 21 (HSA21) and a mutation in the transcription factor GATA1 that results in a truncated protein (GATA1s). We generated a euploid iPSC line with a GATA1s mutation that is isogenic to a previously published pair of T21 lines with and without a GATA1 mutation. The line was characterized for pluripotency, differentiation potential, and genomic stability. This line is a valuable isogenic control for studying the T21 hematopoietic phenotype. 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 Oct;72:103198
PubMed 37677872
PubMed Central PMC10872805
DOI 10.1016/j.scr.2023.103198

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