Generation of Induced Pluripotent Stem (iPS) Cell Lines from Somatic Cells of Participants with Eye Diseases and from Somatic Cells of Matched Controls

自创建该方案以来，我们收集了患有相关疾病(例如，老年性黄斑变性、ABCA4、Leber先天性黑色素)的人类受试者的血液和皮肤成纤维细胞样本。到目前为止，对这些样本进行的科学研究是在Kapil Bharti博士和Anand Swaroop博士的实验室完成的。这些研究项目的详细情况可在其年度报告中找到。 该方案目前已被批准用于来自以下患者的455个样本：最佳卵黄样营养不良(最佳疾病)25例，迟发性视网膜变性(L-ORD)病25例，年龄相关黄斑变性(AMD)100例，Leber先天性黑色素沉着症25例，Joubert综合征25例，X连锁视网膜色素变性(RP)25例，眼皮肤白化病1A型25例，眼皮肤白化1B型25例，星形细胞病ABCA4突变25例，与MITF基因突变相关的眼部疾病25例，Waardenburg综合征25例PAX2基因突变相关眼病25例，PAX6基因突变相关眼病25例，缺损型25例，增强型S锥综合征5例。

Since the creation of this protocol, we have accrued blood and skin fibroblast samples on human subjects with diseases of interest (e.g., age-related macular degeneration, ABCA4, Leber congenital amaurosis). To date, the science that has been performed on these samples has been done in the laboratories of Dr. Kapil Bharti and Dr. Anand Swaroop. Details on these research projects can be found in their annual reports. The protocol is approved currently for 455 total samples from the following kinds of patients: 25 with Best Vitelliform Dystrophy (Best disease), 25 with Late-Onset Retinal Degeneration (L-ORD) disease, and 100 with Age-related Macular Degeneration (AMD), 25 with Leber Congenital Amaurosis (LCA), 25 with Joubert syndrome, 25 with X-linked Retinitis Pigmentosa (RP), 25 with Oculocutaneous Albinism Type 1A (OCA1A), 25 with Oculocutaneous Albinism Type 1B (OCA1B), 25 with Oculocutaneous Albinism Type 2 (OCA2), 25 with Stargardts disease with ABCA4 mutations, 25 with eye diseases associated with MITF gene mutations, 25 with Waardenburg syndrome, 25 with eye diseases associated with PAX2 gene mutations and 25 with eye diseases associated with PAX6 gene mutations, 25 with coloboma and 5 with Enhanced S cone syndrome.