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

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.

A generation of human-induced pluripotent stem cell line (MUi032-A) from a Choroideremia disease patient carrying a hemizygous mutation on the CHM gene.

Choroideremia (CHM) is a monogenic, X-linked inherited retinal disease caused by mutations in the CHM gene. CHM patients develop progressive loss of vision due to degeneration of cell layers in the retina. In this report, the human-induced pluripotent stem cell, MUi032-A, was generated from CD34+ hematopoietic stem/progenitor cells of a male CHM patient by co-electroporation of non-integration episomal vectors containing OCT4/shp53, Sox-2/KLF4, and L-MYC/LIN-28.

Intravitreal autologous mesenchymal stem cell transplantation: a non-randomized phase I clinical trial in patients with retinitis pigmentosa.

Background: Retinitis pigmentosa (RP) is a progressive inherited retinal disease with great interest for finding effective treatment modalities. Stem cell-based therapy is one of the promising candidates. We aimed to investigate the safety, feasibility, and short-term efficacy of intravitreal injection of bone marrow-derived mesenchymal stem cells (BM-MSCs) in participants with advanced stage RP.

Multicenter validation of fully automated capillary electrophoresis method for diagnosis of thalassemias and hemoglobinopathies in Thailand.

Thalassemias and hemoglobinopathies are highly prevalent in Thailand and other Southeast Asian countries. Accurate and precise separation of hemoglobin types, together with reliable quantitation, are essential for differential diagnosis of these diseases. Presented in this study is a multicenter validation of a fully automated capillary electrophoresis (CE) method for hemoglobin separation and quantitation involving four reference laboratories in Thailand.

Validation of osmotic fragility test and dichlorophenol indophenol precipitation test for screening of thalassemia and Hb E.

The strategy for screening of thalassemia and Hb E by a combination of osmotic fragility (OF) test and dichlorophenol indophenol precipitation (DCIP) test was validated with 436 unrelated Thai subjects. Hemoglobin (Hb) typing, Hb A2 quantitation, PCR and DNA sequence analysis were used as confirmatory methods for diagnosis of thalassemia and hemoglobinopathy. The sensitivity and specificity of this strategy was 100% and 79.

Prevention of thalassemia: experiences from Samui Island.

Thalassemia is one of the most important genetic disorders in Thailand. A model for prevention of thalassemia by combining 4 strategies including education, carrier screening, counseling and prenatal diagnosis was developed by a thalassemia task force. A thalassemia work group was formed in order to develop a mechanism to integrate the model for real use on Samui Island where thalassemia is common and a specific disease oriented program is required.

The validation of an automated liquid chromatography system for the diagnosis of thalassemias and hemoglobinopathies.

Accurate and precise hemoglobin separation and the quantitation of Hb A2 and Hb F are essential for the diagnosis of the thalassemias and hemoglobinopathies. Presented in this study is the validation of the the Hb A2 assay of the HbGold analyzer, a fully automated liquid chromatography system for hemoglobin separation and quantitation. Variability of Hb A2 quantitation was quite low; the CV's of within-run, between-run and interlaboratory studies were 1.

Hb G Makassar (beta 6:Glu-Ala) in a Thai family.

Hemoglobin G Makassar was identified in a family of Thai origin, which was found to share identical properties with hemoglobin S in routine hemoglobin separation both by cellulose acetate electrophoresis and cation-exchange HPLC. It is, therefore, subjects with hemoglobin G Makassar and hemoglobin S who may sometimes be mistakenly identified for each other. In this study, identification of hemoglobin G Makassar was achieved by DNA sequence analysis, which revealed a single nucleotide substitution GAG-->GCG at codon 6 of the beta-globin gene.