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

从患有眼病的参与者的体细胞和匹配对照的体细胞中产生诱导多能干 (iPS) 细胞系

• 批准号: 8938372
• 负责人: Brian Brooks
• 金额: $ 14.55万
• 依托单位: NATIONAL EYE INSTITUTE
• 依托单位国家: 美国
• 资助国家: 美国
• 起止时间: 至
• 项目状态: 未结题
• 来源: https://reporter.nih.gov/project-details/8938372
• 关键词: Age related macular degeneration; Annual Reports; Biopsy; Blood; Cell Line; Cells; Clinical; Collection; Coloboma; Cone; Disease; Eye diseases; Fibroblasts; Functional disorder; Gene Mutation; Generations; Individual; Inherited; Joubert syndrome; Laboratories; Leber' s amaurosis; Link; Mutation; Oculocutaneous Albinism; Oculocutaneous albinism type 2; Participant; Patients; Protocols documentation; Reagent; Research; Research Project Grants; Retinal Degeneration; Retinitis Pigmentosa; Sampling; Science; Skin; Somatic Cell; Syndrome; Therapeutic; Tissue Sample; Vitelliform macular dystrophy; Waardenburg syndrome; base; human subject; induced pluripotent stem cell; interest

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.

自从创建该方案以来，我们就患有感兴趣疾病的人类受试者（例如，与年龄相关的黄斑变性，ABCA4，Leber先天性amaurisosis）获得了血液和皮肤成纤维细胞样本。 迄今为止，在Kapil Bharti博士和Anand Swaroop博士的实验室中已经进行了这些样本的科学。 这些研究项目的详细信息可以在其年度报告中找到。 该协议目前已获得以下类型患者的455个总样本的批准：25种最佳叶片性营养不良（最佳疾病），25例患有迟发性视网膜变性（L-ord）疾病（L-ord）疾病和100例与年龄相关的黄斑变性（AMD），25例，列伯先前amaurosis（LCA）25，与Joubert contrymed contraniin，25眼皮白化症1A型（OCA1A），25，具有眼皮白化病1B型（OCA1B），25，具有眼齿状白化病2型（OCA2），25与ABCA4突变的Stargardts疾病，与ABCA4突变，与MITF GeneNES的25与MITF Genardens Syndrome相关的Engease synderme，25与PAX6基因突变相关的眼部疾病，25与山骨相关，5和S锥综合征增强。