4.2 Article

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

相关参考文献

注意:仅列出部分参考文献,下载原文获取全部文献信息。
Article Cell & Tissue Engineering

Single A generation of human induced pluripotent stem cell line (MUi031-A) from a type-3 Gaucher disease patient carrying homozygous mutation on GBA1 gene

Tanapat Pornsukjantra et al.

Summary: In this study, a human induced pluripotent stem cell line for Gaucher disease was established, providing a valuable tool for further investigations.

STEM CELL RESEARCH (2022)

Article Biotechnology & Applied Microbiology

An Optical and Chemiluminescence Assay for Assessing the Cytotoxicity of Balamuthia mandrillaris against Human Neurospheroids

Worakamol Pengsart et al.

Summary: The study demonstrates the potential use of neurospheroids for assessing the cytotoxicity of the pathogenic amoeba Balamuthia mandrillaris. The trophozoites of B. mandrillaris cause cellular damage in neurospheroids by reducing ATP production, leading to loss of neurospheroid integrity. This damage process can be observed using microscopic imaging and ATP detection.

BIOENGINEERING-BASEL (2022)

Article Genetics & Heredity

CHM mutation spectrum and disease: An update at the time of human therapeutic trials

Christina Zeitz et al.

Summary: Choroideremia is an X-linked inherited retinal disorder characterized by specific phenotype with causative mutations in the CHM gene, most of the variants are loss-of-function mutations. Recurrent variants are observed globally, with some linked to common ancestors and others arising independently in specific CHM regions prone to mutations.

HUMAN MUTATION (2021)

Article Biochemical Research Methods

A more efficient method to generate integration-free human iPS cells

Keisuke Okita et al.

NATURE METHODS (2011)