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

Stem cell research - 1 Dec 2017

Terray Angélique, Fort Victoire, Slembrouck Amélie, Nanteau Céline, Sahel José-Alain, Reichman Sacha, Audo Isabelle, Goureau Olivier

Abstract excerpt

A human iPS cell line was generated from fibroblasts of a phenotypically unaffected patient from a family with PRPF31-associated retinitis pigmentosa (RP). The transgene-free iPS cells were generated with the human OSKM transcription factors using the Sendai-virus reprogramming system. iPS cells contained the expected c.709-734dup substitution in exon 8 of PRPF31, expressed the expected pluripotency markers,...

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Cell Differentiation
Eye Proteins
Fibroblasts
PRPF31 gene
Induced Pluripotent Stem Cells

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Retinitis Pigmentosa

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Identifiers

PMID: 29040912
DOI: 10.1016/j.scr.2017.10.007

Genes

PRPF31

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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Establishment of an induced pluripotent stem (iPS) cell line from dermal fibroblasts of an asymptomatic patient with dominant PRPF31 mutation.PMID 29040912Read ↗

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 ↗

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 ↗

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.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 ↗

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 ↗

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

Generation of induced pluripotent stem cell line (RCMGi001-A) from human skin fibroblasts of a cystic fibrosis patient with p.F508del mutation.Semantic proximity Read ↗

Generation of three human iPSC lines from a retinitis pigmentosa family with SLC7A14 mutation.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 ↗

Identification of two novel PRPF31 mutations in Chinese families with non-syndromic autosomal dominant retinitis pigmentosa.Semantic proximity Read ↗

Autosomal dominant retinitis pigmentosa secondary to pre-mRNA splicing-factor gene PRPF31 (RP11): review of disease mechanism and report of a family with a novel 3-base pair insertion.Semantic proximity Read ↗

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