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

Zhou, Yalan; Jing, Yutong; Mao, Shengru; Liu, Jian; Cui, Zekai; Wang, Yini; Chen, Juan; Chan, Hon Fai; Tang, Shibo; Chen, Jiansu

doi:10.1016/j.scr.2020.101793

Cited by 3 publications

(2 citation statements)

References 3 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…The patient iPSC line (CSUASOi004-A) employed in this study was generated from the peripheral blood mononuclear cells of a patient with PRPF6 mutation, as previously reported [ 28 ]. The cells were cultured in 6-well plates coated with Matrigel (Corning, New York, USA) using mTeSR TM Plus medium (StemCell Technologies, Vancouver, BC, Canada) at 37 °C, 5% CO 2 in a humidified incubator.…”

Section: Methodsmentioning

confidence: 99%

“…However, such a model has not been established so far [ 27 ]. In this study, we produced a human in vitro disease model of RPE cells derived from the iPSCs of a patient carrying a pathogenic mutation in PRPF6 (c.G2699A:p.Arg900His) (CSUASOi004-A) [ 28 ]. Then, the patient iPSC-derived RPE cells were compared with those derived from age- and sex-matched normal iPSCs.…”

Section: Introductionmentioning

confidence: 99%

See 1 more Smart Citation

Aberrant Retinal Pigment Epithelial Cells Derived from Induced Pluripotent Stem Cells of a Retinitis Pigmentosa Patient with the PRPF6 Mutation

Liang

Tan

Sun

et al. 2022

IJMS

Self Cite

View full text Add to dashboard Cite

Pre-mRNA processing factors (PRPFs) are vital components of the spliceosome and are involved in the physiological process necessary for pre-mRNA splicing to mature mRNA. As an important member, PRPF6 mutation resulting in autosomal dominant retinitis pigmentosa (adRP) is not common. Recently, we reported the establishment of an induced pluripotent stem cells (iPSCs; CSUASOi004-A) model by reprogramming the peripheral blood mononuclear cells of a PRPF6-related adRP patient, which could recapitulate a consistent disease-specific genotype. In this study, a disease model of retinal pigment epithelial (RPE) cells was generated from the iPSCs of this patient to further investigate the underlying molecular and pathological mechanisms. The results showed the irregular morphology, disorganized apical microvilli and reduced expressions of RPE-specific genes in the patient’s iPSC-derived RPE cells. In addition, RPE cells carrying the PRPF6 mutation displayed a decrease in the phagocytosis of fluorescein isothiocyanate-labeled photoreceptor outer segments and exhibited impaired cell polarity and barrier function. This study will benefit the understanding of PRPF6-related RPE cells and future cell therapy.

show abstract

Section: Methodsmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Aberrant Retinal Pigment Epithelial Cells Derived from Induced Pluripotent Stem Cells of a Retinitis Pigmentosa Patient with the PRPF6 Mutation

Liang

Tan

Sun

et al. 2022

IJMS

Self Cite

View full text Add to dashboard Cite

show abstract

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

Liang

Sun²,

Duan³

et al. 2022

Stem Cell Research

View full text Add to dashboard Cite

Application of patient-derived induced pluripotent stem cells and organoids in inherited retinal diseases

Liang,

Sun,

Duan

et al. 2023

Stem Cell Res Ther

Self Cite

View full text Add to dashboard Cite

Inherited retinal diseases (IRDs) can induce severe sight-threatening retinal degeneration and impose a considerable economic burden on patients and society, making efforts to cure blindness imperative. Transgenic animals mimicking human genetic diseases have long been used as a primary research tool to decipher the underlying pathogenesis, but there are still some obvious limitations. As an alternative strategy, patient-derived induced pluripotent stem cells (iPSCs), particularly three-dimensional (3D) organoid technology, are considered a promising platform for modeling different forms of IRDs, including retinitis pigmentosa, Leber congenital amaurosis, X-linked recessive retinoschisis, Batten disease, achromatopsia, and best vitelliform macular dystrophy. Here, this paper focuses on the status of patient-derived iPSCs and organoids in IRDs in recent years concerning disease modeling and therapeutic exploration, along with potential challenges for translating laboratory research to clinical application. Finally, the importance of human iPSCs and organoids in combination with emerging technologies such as multi-omics integration analysis, 3D bioprinting, or microfluidic chip platform are highlighted. Patient-derived retinal organoids may be a preferred choice for more accurately uncovering the mechanisms of human retinal diseases and will contribute to clinical practice.

show abstract

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

Cited by 3 publications

References 3 publications

Aberrant Retinal Pigment Epithelial Cells Derived from Induced Pluripotent Stem Cells of a Retinitis Pigmentosa Patient with the PRPF6 Mutation

Aberrant Retinal Pigment Epithelial Cells Derived from Induced Pluripotent Stem Cells of a Retinitis Pigmentosa Patient with the PRPF6 Mutation

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

Application of patient-derived induced pluripotent stem cells and organoids in inherited retinal diseases

Contact Info

Product

Resources

About