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Generation of an induced pluripotent stem cell line (SJTUGHi001-A) from a patient with Retinitis Pigmentosa carrying c.77C > T mutation in RAX2 gene.

Stem cell research - 1 Jun 2024

Bai Xinyue, Chen Jieqiong, Zhao Xiaohuan, Zhu Xinyue, Ding Xiaoyan, Zhang Ting, Jiang Mei, Sun Xiaodong

Abstract excerpt

Retinitis pigmentosa (RP) is a group of genetically heterogeneous retinopathy resulting in irreversible loss of vision. Mutations in RAX2 gene has been related to RP with mechanisms unclear. Here, we generated a human induced pluripotent stem cell (iPSC) line from peripheral blood mononuclear cells of a RP patient carrying c.77C > T mutation in RAX2 gene. This cell line was induced by integration-free episomal...

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Identifiers

PMID: 38507880
DOI: 10.1016/j.scr.2024.103390

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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Generation of an induced pluripotent stem cell line (SJTUGHi001-A) from a patient with Retinitis Pigmentosa carrying c.77C > T mutation in RAX2 gene.PMID 38507880Read ↗

Establishment of induced pluripotent stem cell line CSUASOi004-A by reprogramming peripheral blood mononuclear cells of a PRPF6-related dominant retinitis pigmentosa patient.Semantic proximity Read ↗

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Generation of a human-induced pluripotent stem cell line from a retinitis pigmentosa patient carrying biallelic mutations in EYS gene.Semantic proximity Read ↗

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