Genomics

Dataset Information

0

Homo sapiens


ABSTRACT: Modeling the pathogenesis of Charcot-Marie-Tooth disease type 1A using patient-specific iPSCs

PROVIDER: PRJNA383068 | ENA |

REPOSITORIES: ENA

Dataset's files

Source:
Action DRS
SRR5452960_1.fastq.gz Fastqsanger.gz
SRR5452960_2.fastq.gz Fastqsanger.gz
SRR5452961_1.fastq.gz Fastqsanger.gz
SRR5452961_2.fastq.gz Fastqsanger.gz
SRR5452954.fastq.gz Fastqsanger.gz
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Publications


Charcot-Marie-Tooth disease type 1A (CMT1A), one of the most frequent inherited peripheral neuropathies, is associated with PMP22 gene duplication. Previous studies of CMT1A mainly relied on rodent models, and it is not yet clear how PMP22 overexpression leads to the phenotype in patients. Here, we generated the human induced pluripotent stem cell (hiPSC) lines from two CMT1A patients as an in vitro cell model. We found that, unlike the normal control cells, CMT1A hiPSCs rarely generated Schwann  ...[more]

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