Generation of CHOPi-008-B, a euploid iPSC line from a patient with Trisomy 21 and a GATA1 mutation.
Generation of CHOPi-008-B, a euploid iPSC line from a patient with Trisomy 21 and a GATA1 mutation.
复制标题
生成 CHOPi-008-B，这是来自 21 三体和 GATA1 突变患者的整倍体 iPSC 系。
DOI：
10.1016/j.scr.2023.103198
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发表时间：
2023
影响因子：
1.2
通讯作者：
Chou,StellaT
中科院分区：
文献类型：
--
作者：
Takasaki,Kaoru;Kumar,SaraS;Gagne,Alyssa;French,DeborahL;Chou,StellaT
短暂性骨髓增生性疾病（TMD）是一种白血病前期疾病，仅发生在21三体（T21）新生儿中，是由于21号染色体第三拷贝（HSA21）和转录因子orgata1突变之间的遗传相互作用导致截断蛋白（GATA1s）。我们生成了一个具有GATA1s突变的整倍体iPSC系，该系与先前发表的一对具有或不具有agata1突变的T21系是等基因的。该品系具有多能性、分化潜力和基因组稳定性。该系是研究T21造血表型的有价值的等基因对照。
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 factorGATA1that 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 aGATA1mutation. The line was characterized for pluripotency, differentiation potential, and genomic stability. This line is a valuable isogenic control for studying the T21 hematopoietic phenotype.