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Comparison of three congruent patient-specific cell types for the modelling of a human genetic Schwann-cell disorder

Title
Comparison of three congruent patient-specific cell types for the modelling of a human genetic Schwann-cell disorder
Author
오요한
Keywords
ASCORBIC-ACID TREATMENT; NF-KAPPA-B; MOUSE MODEL; STEM-CELLS; MYELIN; DIFFERENTIATION; EXPRESSION; RECEPTOR; RECRUITMENT; PHENOTYPE
Issue Date
2019-07
Publisher
NATURE PUBLISHING GROUP
Citation
NATURE BIOMEDICAL ENGINEERING, v. 3, no. 7, Page. 571-582
Abstract
Patient-specific human-induced pluripotent stem cells (hiPSCs) hold great promise for the modelling of genetic disorders. However, these cells display wide intra-and interindividual variations in gene expression, which makes distinguishing true-positive and false-positive phenotypes challenging. Data from hiPSC phenotypes and human embryonic stem cells (hESCs) harbouring the same disease mutation are also lacking. Here, we report a comparison of the molecular, cellular and functional characteristics of three congruent patient-specific cell types-hiPSCs, hESCs and direct-lineage-converted cells-derived from currently available differentiation and direct-reprogramming technologies for use in the modelling of Charcot-Marie-Tooth 1A, a human genetic Schwann-cell disorder featuring a 1.4 Mb chromosomal duplication. We find that the chemokines C-X-C motif ligand chemokine-1 (CXCL1) and macrophage chemoattractant protein-1 (MCP1) are commonly upregulated in all three congruent models and in clinical patient samples. The development of congruent models of a single genetic disease using somatic cells from a common patient will facilitate the search for convergent phenotypes.
URI
https://www.nature.com/articles/s41551-019-0381-8https://repository.hanyang.ac.kr/handle/20.500.11754/152423
ISSN
2157-846X
DOI
10.1038/s41551-019-0381-8
Appears in Collections:
GRADUATE SCHOOL OF BIOMEDICAL SCIENCE AND ENGINEERING[S](의생명공학전문대학원) > BIOMEDICAL SCIENCE(의생명과학과) > Articles
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