Journal
NATURE BIOMEDICAL ENGINEERING
Volume 3, Issue 7, Pages 571-582Publisher
NATURE PUBLISHING GROUP
DOI: 10.1038/s41551-019-0381-8
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Funding
- New York Stem Cell Foundation
- CMT Association
- National Institutes of Health [R01NS093213]
- Muscular Dystrophy Association
- MSCRF/TEDCO
- FARMS Fellowship
- Ministry of Education, Science and Technology [2017K1A4A3014959]
- Kyung Hee University [KHU-20160535]
- Korea Health Technology R&D Project through the KHIDI - Ministry of Health & Welfare, the Republic of Korea [HI16C2216]
- NRF - Korean government [NRF-2017R1C1B3009321, NRF-2017M3C7A1047640, NRF-2017M3A9E4047243]
- New York State Stem Cell Fund
- New York state stem cell science program (NYSTEM) [C32599GG]
- Dr. Miriam and Sheldon G. Adelson Medical Research Foundation
- [RN3-06530]
- [NS097545]
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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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