Cell line resources for the study of neurofibromin: functions, phenotypes, and drug discovery/development
Liu, H.; Liu, J.; Li, C.; Luppi, E.; Rayat-Sanati, K.; Awad, E.; Westin, E.; Bedwell, D.; Hartman, M.; Leier, A.; Anastasaki, C.; Gutmann, D. H.; Kesterson, R.; Wallis, D.
Show abstract
Our labs have been studying neurofibromin function and phenotype for over a decade with the intent of generating targeted therapeutics for Neurofibromatosis type 1 (NF1). In the process, we have generated numerous human cell lines containing variants within the NF1 gene. Herein, we present data characterizing these cell lines and make them publicly available for use by researchers both within and outside the NF1 community. We describe lines that contain both well-characterized patient-specific variants either at their endogenous locus or as exogenous cDNAs, as well as variants of uncertain significance (VUS), engineered as heterozygous, homozygous, and compound heterozygous variants. Methods to generate each line and subsequent validation steps are detailed including targeted sequencing, Western blot analysis for neurofibromin expression and ERK activation. The utility of each line is dependent on the variant of interest, the parental cell line, and the mechanism of action relevant to possible therapeutic targeting.
Matching journals
The top 6 journals account for 50% of the predicted probability mass.
Similar papers in this journal
- Type II Alexander disease caused by splicing errors and aberrant overexpression of an uncharacterized GFAP isoform. 91%
- RNA sequencing identifies a cryptic exon caused by a deep intronic variant in NDUFB10 resulting in isolated Complex I deficiency. 91%
- Functional Interrogation of Lynch Syndrome Associated MSH2 Missense Variants Using CRISPR-Cas9 Gene Editing in Human Embryonic Stem Cells 90%
Similar papers in this journal
- Genetic activation of ERK2 recapitulates core neurodevelopmental features of Rasopathy syndromes in mice 92%
- Exonic splice variant discovery using in vitro models of inherited retinal disease 92%
- Gene Specific Pathogenicity Predictor for Chromatin-Remodeling BAF Complex-Associated Neurodevelopmental Disorders 89%
Similar papers in this journal
- Comprehensive phenotyping of 3q29 deletion syndrome: recommendations for clinical care 91%
- COVID-19 in people with neurofibromatosis 1, neurofibromatosis 2, or schwannomatosis 91%
- Heterogeneity of comprehensive clinical phenotype and longitudinal adaptive function and correlation with computational predictions of severity of missense genotypes in KIF1A-associated neurological disorder 90%
Similar papers in this journal
- Immortalization and Characterization of Schwann Cell Lines Derived from NF1 Associated Cutaneous Neurofibromas 94%
- Validating indicators of CNS disorders in a swine model of neurological disease 91%
- Neuropathy-related mutations alter the membrane binding properties of the human myelin protein P0 cytoplasmic tail 90%
Similar papers in this journal
- A recurrent de novo splice site variant involving DNM1 alternative exon 10a causes developmental and epileptic encephalopathy through a dominant-negative mechanism 92%
- Somatic Mutations in Vascular Malformations of Hereditary Hemorrhagic Telangiectasia Result in Biallelic Loss of ENG or ACVRL1 91%
- De novo EIF2AK1 and EIF2AK2 variants are associated with developmental delay, leukoencephalopathy, and neurologic decompensation 91%
"Similar papers" are the closest papers from that journal in the model's embedding space. They show what the match is built on, but the ranking comes mostly from a classifier over the whole training set, not from these examples alone.