Elsayed Ahmed K, Aghadi Maryam, Ali Gowher, Al-Khawaga Sara, Hussain Khalid, Abdelalim Essam M
Diabetes Research Center, Qatar Biomedical Research Institute (QBRI), Hamad Bin Khalifa University (HBKU), Qatar Foundation (QF), PO Box 34110, Doha, Qatar.
Diabetes Research Center, Qatar Biomedical Research Institute (QBRI), Hamad Bin Khalifa University (HBKU), Qatar Foundation (QF), PO Box 34110, Doha, Qatar; College of Health and Life Sciences, Hamad Bin Khalifa University (HBKU), Qatar Foundation, Education City, Doha, Qatar.
Stem Cell Res. 2020 Jan;42:101705. doi: 10.1016/j.scr.2020.101705. Epub 2020 Jan 21.
FOXA2 is a transcription factor, playing an important role during development. We established an induced pluripotent stem cell (iPSC) line, QBRIi009-A, using non-integrating Sendai virus from a 4-year-old boy, displaying a complex clinical phenotype. Molecular karyotyping and cytogenetics confirmed a de novo proximal 20p11.2 deletion with a reciprocal translocation between the short arm of chromosome 6 and 20. The deleted region (~969 kb) contains only one gene, FOXA2. The generated hiPSC line was fully characterized for its pluripotency and its genetic identity. This iPSC line provides a useful model to study FOXA2 role during human development and in disease pathogenesis.
FOXA2是一种转录因子，在发育过程中发挥重要作用。我们使用来自一名4岁男孩的非整合仙台病毒建立了一个诱导多能干细胞（iPSC）系QBRIi009-A，该男孩表现出复杂的临床表型。分子核型分析和细胞遗传学证实了一个新发的近端20p11.2缺失，以及6号染色体短臂与20号染色体之间的相互易位。缺失区域（约969 kb）仅包含一个基因FOXA2。所产生的人诱导多能干细胞系对其多能性和遗传特性进行了全面表征。该iPSC系为研究FOXA2在人类发育和疾病发病机制中的作用提供了一个有用的模型。
