Patient Data
syn65467790
Created By
Anh Nguyet Vu avu
title: Patient Data
funder: CTF
creator: Elisabeth Castellanos
license: CC-BY
species: Homo sapiens
studyId: syn21355225
subject: Neurofibromatosis
citation: https://doi.org/10.1016/j.omtn.2022.10.026
dataType: drugScreen
keywords: Neurofibromatosis Type 2 NF2 antisense oligonucleotides AON splicing truncating mutations personalized therapy phosphorodiamidate morpholino oligomers PMOs exon skipping merlin fibroblasts in vitro
accessType: Controlled Access
contributor: Elisabeth Castellanos Núria Catasús
description: Patient fibroblast data evaluating antisense oligonucleotides (AONs) designed to correct NF2 splicing or truncating mutations in vitro. Includes results from RT-PCR, Sanger sequencing, Western Blot, immunofluorescence, and proliferation assays after treatment with phosphorodiamidate morpholino oligomers (PMOs).
diseaseFocus: NF2-related schwannomatosis
manifestation: Schwannoma
specimenCount: 13
individualCount: 13
conditionsOfAccess: Synapse account required
measurementTechnique: polymerase chain reaction
includedInDataCatalog: https://www.synapse.org/DataCatalog:0
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