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Generation of a human iPSC line (BTHBIOi001-A) from a retinitis pigmentosa patient with CNGA1 gene mutation

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机构： [1]School of Basic Medical Sciences, Wenzhou Medical University, Wenzhou 325035, China [2]Beijing Institute of Ophthalmology, Beijing Tongren Eye Center, Beijing Tongren Hospital, Capital Medical University, Beijing Ophthalmology & Visual Sciences Key Laboratory, Beijing 100730, China

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Retinitis pigmentosa (RP) is a group of inherited retinal disorders caused by genetic mutations, leading to progressive photoreceptors degeneration and eventual blindness. Mutations in CNGA1 can cause autosomal recessive retinitis pigmentosa (ARRP). Here, a human iPSC line of a retinitis pigmentosa patient was generated, with the mutation of CNGA1 gene (homozygous c.1621G > A; p.R 420 > Q), by using a non-integrating episomal vector system including OCT4, SOX2, c-Myc and KLF4. It is identified that the cell line showed a normal female karyotype (46, XX), expressed pluripotency markers, and had the ability to differentiate into three germ layers in vitro.Copyright © 2025 The Authors. Published by Elsevier B.V. All rights reserved.

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出版当年[2025]版：

大类 | 4 区医学

小类 | 4 区生物工程与应用微生物 4 区细胞与组织工程 4 区细胞生物学

最新[2025]版：

大类 | 4 区医学

小类 | 4 区生物工程与应用微生物 4 区细胞与组织工程 4 区细胞生物学

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第一作者机构： [1]School of Basic Medical Sciences, Wenzhou Medical University, Wenzhou 325035, China

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通讯机构： [1]School of Basic Medical Sciences, Wenzhou Medical University, Wenzhou 325035, China [2]Beijing Institute of Ophthalmology, Beijing Tongren Eye Center, Beijing Tongren Hospital, Capital Medical University, Beijing Ophthalmology & Visual Sciences Key Laboratory, Beijing 100730, China

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