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

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 ch

SUBMITTER: Mukherjee-Clavin B 

PROVIDER: S-EPMC6612317 | biostudies-literature | 2019 Jul

REPOSITORIES: biostudies-literature