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mRNA Sequencing of CMT2A, CMT1A patients and Normal human fibroblasts

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NIAID Data Ecosystem2026-03-13 收录
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https://www.ncbi.nlm.nih.gov/geo/query/acc.cgi?acc=GSE158650
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We performed RNA sequencing on the 3 CMT2A-causing MFN2 mutations patient cell lines and 3 normal control lines, all cultured in galactose, we found striking transcriptional signature for CMT2A was present. And the CMT2A fibroblast transcriptional signature was >90% different from that of primary fibroblasts from a patient with CMT1 with a duplication mutation within the PMP22 gene. Comparison transcritional signature among CMT2A, CMT1A patients and Normal human fibroblasts
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2022-03-30
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