从 21 三体综合征和 GATA1 突变的患者中生成 2 个同基因克隆。
Generation of 2 isogenic clones from a patient with Trisomy 21 and a GATA1 mutation.
机构信息
Children's Hospital of Philadelphia, Philadelphia, PA 19104, United States; Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, United States.
Children's Hospital of Philadelphia, Philadelphia, PA 19104, United States.
出版信息
Stem Cell Res. 2023 Jun;69:103098. doi: 10.1016/j.scr.2023.103098. Epub 2023 Apr 15.
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.
三体 21（T21），或唐氏综合征（DS），是一种常见的染色体疾病，由 21 号染色体（HSA21）的第三份拷贝引起。一过性髓系增生异常（TMD）是一种仅发生在唐氏综合征新生儿中的白血病前期疾病，其特征在于转录因子 GATA1 发生突变，导致截短蛋白（GATA1s）。我们从患有 TMD 的患者中产生了一对仅在 GATA1 状态上不同的同源 T21 系。这些 iPSC 系被用于多能性、分化潜能和基因组稳定性的特征描述。这些系是研究 T21 造血疾病的宝贵资源。
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