从一名黄斑角膜营养不良患者外周血单个核细胞中生成诱导多能干细胞系（GLNNFi001-A）。
Generation of iPSC line (GLNNFi001-A) from peripheral blood mononuclear cells of a patient with macular corneal dystrophy.
机构信息
GROW Research Laboratory, Programmed Cell Therapy Division, Narayana Nethralaya Foundation, Bangalore, Karnataka, India.
GROW Research Laboratory, Programmed Cell Therapy Division, Narayana Nethralaya Foundation, Bangalore, Karnataka, India.
出版信息
Stem Cell Res. 2022 Jul;62:102789. doi: 10.1016/j.scr.2022.102789. Epub 2022 Apr 22.
Macular corneal dystrophy (MCD) an autosomal recessive disorder leading to severe visual impairment is caused by mutations in the carbohydrate sulfotransferase 6 (CHST6) gene. Here, we describe generation of a iPSC line from peripheral blood mononuclear cells (PBMCs) from a 38 year old MCD patient harboring a homozygous mutation, p.V172L in the CHST6 gene. The iPSC line GLNNFi001-A was generated using an integration-free Sendai virus containing (KLF4, c-MYC, OCT4 and SOX2).
黄斑角膜营养不良（MCD）是一种常染色体隐性疾病，可导致严重的视力损害，是由碳水化合物磺基转移酶 6（CHST6）基因突变引起的。在这里，我们描述了从一位 38 岁 MCD 患者的外周血单核细胞（PBMC）中生成诱导多能干细胞系（iPSC 系），该患者携带 CHST6 基因中的纯合突变 p.V172L。iPSC 系 GLNNFi001-A 是使用不含整合的包含（KLF4、c-MYC、OCT4 和 SOX2）的 Sendai 病毒生成的。
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