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Induced pluripotent stem cells of RPE65 gene mutation patients

A technology of pluripotent stem cells and patients, applied in the direction of artificially induced pluripotent cells, genetically modified cells, cells modified by introducing foreign genetic material, etc., can solve degeneration, can not prevent retinal degeneration, photoreceptor and RPE cell apoptosis Death and other issues to achieve the effect of improving safety

Active Publication Date: 2020-01-14
ZHONGSHAN OPHTHALMIC CENT SUN YAT SEN UNIV
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  • Summary
  • Abstract
  • Description
  • Claims
  • Application Information

AI Technical Summary

Problems solved by technology

Although gene therapy can improve photosensitivity, the improved function regresses after three years and cannot prevent retinal degeneration, leading to apoptosis of photoreceptors and RPE cells (Liu et al., 2018)
In addition, this treatment option is only suitable for patients with well-preserved retinal structures

Method used

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  • Induced pluripotent stem cells of RPE65 gene mutation patients
  • Induced pluripotent stem cells of RPE65 gene mutation patients
  • Induced pluripotent stem cells of RPE65 gene mutation patients

Examples

Experimental program
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Effect test

Embodiment 1

[0029] 1. Urine cell isolation culture and reprogramming

[0030] ①Cells: urine cells from RPE65-LCA patients

[0031] ②Reagents and consumables:

[0032] 1) DMEM / Ham's F-12nutrient mix (1:1): STEM CELL, #05851, 4°C;

[0033] 2) FBS:

[0034] 3) Renal epithelial cell growth medium (REGM) supplement;

[0035] 4) TrypLE express: Life technologies;

[0036] 5) double antibody;

[0037] 6) 0.1% gelatin solution

[0038] 7) PBS: Jinuo Biomedical Technology Co., Ltd., 14111202, room temperature;

[0039] 8) Plasmids: pEP4-EO2S-ET2Kh and pCEP4-miR-302-367

[0040] ③Instrument:

[0041] 1) CO 2 Incubator: SANYO, MCO-20A1C;

[0042] 2) Inverted microscope: Nikon, TS100;

[0043] 3) Centrifuge

[0044] 4) Electrotransfer: Invitrogen Neon transfection system

[0045] ④Steps:

[0046] 1) The urine sample came from a 9-year-old LCA patient with RPE65 gene mutations, the mutation sites were c.200T>G (p.L67R) and c.430T>C (p.Y144H), and the fundus photos showed that the patient h...

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Abstract

The invention discloses induced pluripotent stem cells of RPE65 gene mutation patients. The obtained induced pluripotent stem cells of RPE65 gene mutation patients are in non-gene integration, so thatthe subsequent application safety can be improved. The obtained RPE65-hiPSCs contains 2 new gene site mutation (c.200T>G(p.L67R) and c.430T> C ( p.Y144H ) ), and a biomaterial is provided for nosogenesis research of such diseases. The obtained RPE65-hiPSCs has polyembryony layer differentiation potency (nerve, cartilage, mucosa and the like), comprises the capacity for differentiation for all retina cells, can provide seed cells for homogeneous or self cell transplantation, and provides a cell material for downstream research.

Description

Technical field: [0001] The invention belongs to the field of stem cell regeneration biology, and in particular relates to an induced pluripotent stem cell of a patient with RPE65 gene mutation. Background technique [0002] Congenital amaurosis (Leber's congenital amaurosis, LCA) is a type of hereditary retinal disease with severe visual impairment, mostly in childhood. The main features of these disorders are decreased vision in the newborn or in the first few months of life, nystagmus, and decreased or defective light reflexes in the rods and cones. At present, at least 20 mutated genes are considered to cause this type of disease, and related pathogenic genes include CEP290, GUCY2D, CRB1 and RPE65 (Wang et al., 2015; Jacobson et al., 2016; Kumaran et al., 2017 ). [0003] RPE65 is an isomer hydrolase mainly found in retinal pigment epithelium (RPE), its main function is to catalyze the conversion of all-trans retinyl ester into 11-cis retinol, this process is called re...

Claims

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Application Information

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Patent Type & Authority Applications(China)
IPC IPC(8): C12N5/10C12N15/85C12N15/61
CPCC12N5/0696C12N9/90C12N15/85C12N2501/65C12N2510/00C12N2800/107C12Y503/03
Inventor 钟秀风李桂兰高冠杰张清炯王攀峰
Owner ZHONGSHAN OPHTHALMIC CENT SUN YAT SEN UNIV
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