9 Matching Annotations
  1. Nov 2022
  2. www.jneurosci.org www.jneurosci.org
    The SYNGAP1 3’UTR variant in ALS patients causes aberrant SYNGAP1 splicing and dendritic spine loss by recruiting HNRNPK
    1
    1. scibot 24 Nov 2022
      RRID:AB_2566589

      DOI: 10.1523/JNEUROSCI.0455-22.2022

      Resource: (BioLegend Cat# 845502, RRID:AB_2566589)

      Curator: @scibot

      SciCrunch record: RRID:AB_2566589

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      RRID:AB_2566589
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    jneurosci.org/content/42/47/8881
  3. Feb 2022
  4. www.sciencedirect.com www.sciencedirect.com
    Generation of an induced pluripotent stem cell line (FDCHI007-A) derived from a patient with Developmental and epileptic encephalopathy Type 31 carrying heterozygous c.545 C>A mutation in DNM1 gene
    1
    1. scibot 13 Feb 2022
      RRID:AB_2566589

      DOI: 10.1016/j.scr.2022.102709

      Resource: (BioLegend Cat# 845502, RRID:AB_2566589)

      Curator: @scibot

      SciCrunch record: RRID:AB_2566589

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      RRID:AB_2566589
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    sciencedirect.com/science/article/pii/S1873506122000587
  5. Jul 2021
  6. www.sciencedirect.com www.sciencedirect.com
    SUMO Safeguards Somatic and Pluripotent Cell Identities by Enforcing Distinct Chromatin States
    1
    1. scibot 30 Jul 2021
      AB_2566589

      DOI: 10.1016/j.stem.2018.10.001

      Resource: (BioLegend Cat# 845502, RRID:AB_2566589)

      Curator: @Jmenke

      SciCrunch record: RRID:AB_2566589

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      RRIDCUR:Validated RRID:AB_2566589
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    sciencedirect.com/science/article/pii/S193459091830482X
  7. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Structural plasticity of actin-spectrin membrane skeleton and functional role of actin and spectrin in axon degeneration
    1
    1. scibot 28 Jul 2021
      RRID:AB_2566589

      DOI: 10.7554/eLife.38730

      Resource: (BioLegend Cat# 845502, RRID:AB_2566589)

      Curator: @evieth

      SciCrunch record: RRID:AB_2566589

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      RRID:AB_2566589 RRIDCUR:Unrecognized
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    ncbi.nlm.nih.gov/pmc/articles/PMC6494423/
  8. Sep 2020
  9. www.sciencedirect.com www.sciencedirect.com
    Generation of an iPSC line (CHWi001-A) from peripheral blood mononuclear cells in a patient with intellectual disability and haploinsufficiency of PLPPR4
    1
    1. scibot 26 Sep 2020
      RRID:AB_2566589

      DOI: 10.1016/j.scr.2020.101811

      Resource: (BioLegend Cat# 845502, RRID:AB_2566589)

      Curator: @ethanbadger

      SciCrunch record: RRID:AB_2566589

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      RRIDCUR:Validated RRID:AB_2566589
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    sciencedirect.com/science/article/pii/S1873506120301136
  10. www.sciencedirect.com www.sciencedirect.com
    Generation of an induced pluripotent stem cell line (CHFUi001-A) from an osteogenesis imperfecta patient with COL1A2 mutation
    1
    1. scibot 12 Sep 2020
      RRID:AB_2566589

      DOI: 10.1016/j.scr.2020.101907

      Resource: (BioLegend Cat# 845502, RRID:AB_2566589)

      Curator: @Naa003

      SciCrunch record: RRID:AB_2566589

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      RRID:AB_2566589 RRIDCUR:Validated
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    sciencedirect.com/science/article/pii/S1873506120302087
  11. www.sciencedirect.com www.sciencedirect.com
    Generation of an isogenic gene-corrected iPSC line (PUMCHi001-A-1) from a familial partial lipodystrophy type 2 (FPLD2) patient with a heterozygous R349W mutation in the LMNA gene
    1
    1. scibot 03 Sep 2020
      RRID:AB_2566589

      DOI: 10.1016/j.scr.2020.101753

      Resource: (BioLegend Cat# 845502, RRID:AB_2566589)

      Curator: @ethanbadger

      SciCrunch record: RRID:AB_2566589

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      RRIDCUR:Validated RRID:AB_2566589
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    sciencedirect.com/science/article/pii/S187350612030057X
  12. Nov 2018
  13. www.sciencedirect.com www.sciencedirect.com
    Untitled document
    1
    1. scibot 05 Nov 2018
      RRID:AB_2566589

      Curator: @anp055

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      (BioLegend Cat# 845502, RRID:AB_2566589)

      SciCrunch record: RRID:AB_2566589

      Alternate resolvers: SciCrunch xml N2T identifiers.org

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      RRID:AB_2566589 RRIDCUR:Validated
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    sciencedirect.com/science/article/pii/S2212877818305325
  14. onlinelibrary.wiley.com onlinelibrary.wiley.com
    Generation and Characterization of Functional Human Hypothalamic Neurons
    1
    1. scibot 05 Nov 2018
      RRID:AB_2566589

      Curator: @evieth

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      (BioLegend Cat# 845502, RRID:AB_2566589)

      SciCrunch record: RRID:AB_2566589

      Alternate resolvers: SciCrunch xml N2T identifiers.org

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      RRID:AB_2566589 RRIDCUR:Validated
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    onlinelibrary.wiley.com/doi/10.1002/cpns.40/full