Comparison of three congruent patient-specific cell types for the modelling of a human genetic Schwann-cell disorder
- Authors
- Mukherjee-Clavin, Bipasha; Mi, Ruifa; Kern, Barbara; Choi, In Young; Lim, Hotae; Oh, Yohan; Lannon, Benjamin; Kim, Kevin J.; Bell, Shaughn; Hur, Junho K.; Hwang, Woochang; Che, Young Hyun; Habib, Omer; Baloh, Robert H.; Eggan, Kevin; Brandacher, Gerald; Hoke, Ahmet; Studer, Lorenz; Kim, Yong Jun; Lee, Gabsang
- Issue Date
- Jul-2019
- Publisher
- NATURE PUBLISHING GROUP
- Citation
- NATURE BIOMEDICAL ENGINEERING, v.3, no.7, pp.571 - 582
- Indexed
- SCIE
SCOPUS
- Journal Title
- NATURE BIOMEDICAL ENGINEERING
- Volume
- 3
- Number
- 7
- Start Page
- 571
- End Page
- 582
- URI
- https://scholarworks.bwise.kr/hanyang/handle/2021.sw.hanyang/147517
- DOI
- 10.1038/s41551-019-0381-8
- ISSN
- 2157-846X
- 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.
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