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Generation of a gene-corrected isogenic human iPSC line (CSUASOi006-A-1) from a retinitis pigmentosa patient with heterozygous c.5792C > T mutation in the PRPF8 gene.

Stem cell research - 1 Dec 2024

Sun Xihao, Liang Yuqin, Duan Chunwen, Liu Xujie, Zhou Yalan, Mao Shengru, Cui Zekai, Gu Jianing, Ding Chengcheng, Chen Jiansu, Tang Shibo

Abstract excerpt

Retinitis pigmentosa (RP) is a common inherited retinal disease characterized by progressive degeneration of the retina, leading to night blindness, progressive vision loss, and constriction of the visual field. Previously, we established a human induced pluripotent stem cell line (CSUASOi006-A) from a RP patient carrying heterozygous PRPF8 (c.C5792T) mutation. Here, we corrected the mutation sites in PRPF8...

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PMID: 39388803
DOI: 10.1016/j.scr.2024.103572

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

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Generation of a gene-corrected isogenic human iPSC line (CSUASOi006-A-1) from a retinitis pigmentosa patient with heterozygous c.5792C > T mutation in the PRPF8 gene.PMID 39388803Read ↗

Generation of a gene-corrected human iPSC line (CSUASOi004-A-1) from a retinitis pigmentosa patient with heterozygous c.2699 G>A mutation in the PRPF6 gene.Semantic proximity Read ↗

Establishment of non-integrate induced pluripotent stem cell line CSUASOi006-A, from urine-derived cells of a PRPF8-related dominant retinitis pigmentosa patient.Semantic proximity Read ↗

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 ↗

Establishment of CSUASOi014-A, an induced pluripotent stem cell line from blood-derived cells of a Chinese patient carrying PRPF31 gene mutation.Semantic proximity Read ↗

Generation of a human iPSC line from a patient with retinitis pigmentosa caused by mutation in PRPF8 gene.Semantic proximity Read ↗

CRISPR/Cas9-mediated generation of a human induced pluripotent stem cell line with PRPF6 c.2699 G > A mutation to model retinitis pigmentosa.Semantic proximity Read ↗

Establishment of the induced pluripotent stem cell line SJTUGHi002-A from a CNGA1-related recessive retinitis pigmentosa patient.Semantic proximity Read ↗

Establishment of an induced pluripotent stem (iPS) cell line from dermal fibroblasts of an asymptomatic patient with dominant PRPF31 mutation.Semantic proximity Read ↗

Generation of a gene-corrected isogenic iPSC cell line from an X-linked retinoschisis patient with a hemizygous mutation c.304C > T (p.R102W) in RS1 gene.Semantic proximity Read ↗

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

Generation of the induced pluripotent stem cell line IOCVi001-A from a patient with the MFRP-related retinitis pigmentosa-nanophthalmos syndrome.Semantic proximity Read ↗

Aberrant Retinal Pigment Epithelial Cells Derived from Induced Pluripotent Stem Cells of a Retinitis Pigmentosa Patient with the PRPF6 Mutation.Semantic proximity Read ↗

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