Generation of the induced pluripotent stem cell line LEIi023-A from a rod-cone dystrophy patient carrying the dominant PRPF31 c.267del variant

IF 0.8 4区医学 Q4 BIOTECHNOLOGY & APPLIED MICROBIOLOGY

Stem cell research Pub Date : 2025-04-02 DOI:10.1016/j.scr.2025.103705

Dan Zhang , Di Huang , Shang-Chih Chen , Danial Roshandel , Tina M Lamey , Jennifer A Thompson , Terri L McLaren , Fred K Chen , Samuel McLenachan

引用次数: 0

Abstract

The human induced pluripotent stem cell line LEIi023-A was generated from a 51-year-old female patient with retinitis pigmentosa 11 (RP11) caused by a single nucleotide deletion in the PRPF31 gene, (NM 015629.3: c.267del, p.(Glu89Aspfs*11)). Reprogramming the patient dermal fibroblasts was performed using episomal plasmids expressing reprogramming factors: OCT4, SOX2, KLF4, LMYC, LIN28, p53 shRNA and miR-302/367. LEIi023-A displayed expression of pluripotent stem cell markers, a normal karyotype and capability for differentiation of the three germ layers and retinal pigment epithelial cells.

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来源期刊

Stem cell research 生物-生物工程与应用微生物

CiteScore

2.20

自引率

8.30%

发文量

338

审稿时长

55 days

期刊介绍： Stem Cell Research is dedicated to publishing high-quality manuscripts focusing on the biology and applications of stem cell research. Submissions to Stem Cell Research, may cover all aspects of stem cells, including embryonic stem cells, tissue-specific stem cells, cancer stem cells, developmental studies, stem cell genomes, and translational research. Stem Cell Research publishes 6 issues a year.