Riera Marina, Patel Achchhe, Burés-Jelstrup Anniken, Corcostegui Borja, Chang Stanley, Pomares Esther, Corneo Barbara, Sparrow Janet R
Fundació de Recerca de l'Institut de Microcirurgia Ocular, Barcelona, Spain; Departament de Genètica, Institut de Microcirurgia Ocular (IMO), Barcelona, Spain; Stem Cell Core Facility, Columbia University, New York, NY, USA; Department of Ophthalmology, Columbia University, New York, NY, USA.
Stem Cell Core Facility, Columbia University, New York, NY, USA.
Stem Cell Res. 2019 Apr;36:101389. doi: 10.1016/j.scr.2019.101389. Epub 2019 Feb 13.
Recessive Stargardt disease (STGD1) is an autosomal recessive retinal dystrophy, caused by mutations in the retina-specific ATP-binding cassette transporter (ABCA4) gene, which plays a role as a retinaldehyde flippase in the photoreceptor outer segments. In this work, two human induced pluripotent stem cell (iPSC) lines were generated from STGD1 patients carrying compound heterozygous mutations in ABCA4. Skin fibroblasts were reprogrammed with the Yamanaka factors using a non-integrating, Sendai virus-based approach. Both iPSC lines displayed typical embryonic stem cell morphology, had normal karyotype, expressed several pluripotency markers and were able to differentiate into all three germ layers. Resource table.
隐性Stargardt病（STGD1）是一种常染色体隐性视网膜营养不良症，由视网膜特异性ATP结合盒转运蛋白（ABCA4）基因突变引起，该基因在光感受器外段作为视黄醛翻转酶发挥作用。在本研究中，从携带ABCA4复合杂合突变的STGD1患者中生成了两个人诱导多能干细胞（iPSC）系。使用基于仙台病毒的非整合方法，用山中因子对皮肤成纤维细胞进行重编程。两个iPSC系均表现出典型的胚胎干细胞形态，具有正常的核型，表达多种多能性标志物，并能够分化为所有三个胚层。资源表。
