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Generation of an EYS-associated retinitis pigmentosa patient-derived human pluripotent stem cell line (MUi038-A).

Stem cell research - 1 Aug 2024

Pongpaksupasin Phitchapa, Tong-Ngam Pirut, Jearawiriyapaisarn Natee, Paiboonsukwong Kittiphong, Sangkitporn Siripakorn, Trinavarat Adisak, Tubsuwan Alisa, Atchaneeyasakul La-Ongsri

Abstract excerpt

Mutations in the eyes shut homolog (EYS) gene are one of the common causes of autosomal recessive retinitis pigmentosa (RP). The lack of suitable animal models hampers progress understanding of the disease mechanism and drug development. This study reported the reprogramming of CD34+ hematopoietic stem/progenitor cells from a patient with compound heterozygous EYS mutations (c.6416 G > A and c.7228 + 1 G > A)...

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Identifiers

PMID: 38810502
DOI: 10.1016/j.scr.2024.103448

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Generation of an EYS-associated retinitis pigmentosa patient-derived human pluripotent stem cell line (MUi038-A).PMID 38810502Read ↗

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

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