CSIR-Institute of Genomics and Integrative Biology (CSIR-IGIB), New Delhi 110025, India; Academy of Scientific and Innovative Research (AcSIR), Ghaziabad 201002, India.
National Centre for Cell Science, NCCS Complex, Pune University Complex, Ganeshkhind, Pune, Maharashtra 411007, India.
Stem Cell Res. 2024 Aug;78:103456. doi: 10.1016/j.scr.2024.103456. Epub 2024 May 28.
Rubinstein Taybi Syndrome (RSTS) is a rare genetic disorder which is caused by mutations in either CREBBP or EP300. RSTS with mutations in CREBBP is known as RSTS-1. We have generated an induced pluripotent stem cell (iPSC) line, IGIBi018-A from an Indian RSTS-patient using the episomal reprogramming method. The CREBBP gene in the patient harbours a nonsense mutation at position NM_004380.3(c.6876 del C). IGIBi018-A iPSC showed expression of pluripotent stem cell markers, has a normal karyotype and could be differentiated into three germ layers. This iPSC line will help to explore the role of CREBBP in RSTS associated developmental defects.
鲁宾斯坦-泰比综合征（RSTS）是一种罕见的遗传性疾病，由 CREBBP 或 EP300 基因突变引起。由 CREBBP 基因突变引起的 RSTS 被称为 RSTS-1。我们使用外显子重编程方法，从一名印度 RSTS 患者中产生了诱导多能干细胞（iPSC）系 IGIBi018-A。患者的 CREBBP 基因在 NM_004380.3(c.6876 del C)位置存在无义突变。IGIBi018-A iPSC 表达多能干细胞标志物，具有正常的核型，可分化为三个胚层。该 iPSC 系将有助于探索 CREBBP 在 RSTS 相关发育缺陷中的作用。
