Generation of 2 isogenic clones from a patient with Trisomy 21 and a GATA1 mutation.
Generation of 2 isogenic clones from a patient with Trisomy 21 and a GATA1 mutation.
复制标题
来自21三体患者和GATA1突变的患者的2个同源克隆产生。
DOI：
10.1016/j.scr.2023.103098
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发表时间：
2023-06
影响因子：
1.2
通讯作者：
Chou, Stella T.
中科院分区：
文献类型：
--
作者：
Takasaki, Kaoru;Kumar, Sara S.;Gagne, Alyssa;French, Deborah L.;Chou, Stella T.
21 三体症 (T21) 或唐氏综合症 (DS) 是一种常见的染色体疾病，由 21 号染色体 (HSA21) 的第三个拷贝引起。短暂性骨髓增殖性疾病 (TMD) 是一种白血病前期病症，仅发生在患有 DS 的新生儿中，其特征是转录因子 GATA1 发生突变，导致蛋白被截短 (GATA1s)。我们生成了一对来自 TMD 患者的同基因 T21 系，仅 GATA1 状态不同。对 iPSC 系的多能性、分化潜力和基因组稳定性进行了表征。这些细胞系是研究 T21 造血系统疾病的宝贵资源。
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.
影响因子：
5.5
作者：
Telezhkin, Vsevolod;Schnell, Christian;Kemp, Paul J.
通讯作者：
Kemp, Paul J.
影响因子：
1.2
作者：
Maguire, Jean Ann;Gagne, Alyssa L.;French, Deborah L.
通讯作者：
French, Deborah L.
影响因子：
15.9
作者：
Byrska-Bishop, Marta;VanDorn, Daniel;Chou, Stella T.
通讯作者：
Chou, Stella T.