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

K Takasaki, SS Kumar, A Gagne, DL French, ST Chou - Stem cell research, 2023 - Elsevier
K Takasaki, SS Kumar, A Gagne, DL French, ST Chou
Stem cell research, 2023Elsevier
Abstract 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 …
Abstract
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.
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