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

ABSTRACT: 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.

SUBMITTER: Takasaki K

PROVIDER: S-EPMC10872805 | biostudies-literature | 2023 Oct

REPOSITORIES: biostudies-literature

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

Takasaki Kaoru K Kumar Sara S SS Gagne Alyssa A French Deborah L DL Chou Stella T ST

Stem cell research 20230901

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 pluripo ...[more]

PMID: 37677872

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

Project description: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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