Abstract：
The Stargardt\'s Disease, Type 1 (STGD1) is associated with the loss of function mutations in ABCA4. This gene codes for a retina-specific, ATP-binding cassette (ABC) family transporter, involved in the transport of the key visual cycle intermediate, all-trans-retinaldehyde (atRAL), across the photoreceptor cell membranes. Here, we report the establishment of a patient-specific, iPSC line (LVPEIi008-A), that carries a homozygous nonsense mutation at (c.6088C > T) position, within exon 44 of ABCA4. The patient-specific skin fibroblasts were reprogrammed using episomal plasmids and the stably expanding iPSC line expressed the key stemness and pluripotency markers, maintained its chromosomal integrity and tested negative for mycoplasma.
摘要：
Stargardt病,1型（STGD1）与ABCA4中功能突变的丧失有关。这个基因编码视网膜特异性的,ATP结合盒（ABC）家族转运蛋白，参与关键视觉循环中间的运输，全反式视黄醛（atRAL），穿过感光细胞膜。这里,我们报告建立了一个特定的病人，iPSC线路(LVPEIi008-A),在（c.6088C>T）位置携带纯合无义突变，在ABCA4的第44外显子内。使用游离质粒对患者特异性皮肤成纤维细胞进行重编程，稳定扩增的iPSC系表达关键的干性和多能性标志物，保持染色体完整性，支原体检测呈阴性。
