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Clinical

Loss-of-function mutations in REP-1 affect intracellular vesicle transport in fibroblasts and monocytes of CHM patients-GSE17549

Purpose

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Hypothesis

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Experimental Design

Expression data were collected from 6 CHM patients' monocytes and 4 CHM primary fibroblasts cultures, monocytes or FB from 5 normal age-matched subjects were used as a control

Experimental Variables

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Controls

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Methods

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Additional Information
  • Strunnikova NV, Barb J, Sergeev YV, Thiagarajasubramanian A et al. Loss-of-function mutations in Rab escort protein 1 (REP-1) affect intracellular transport in fibroblasts and monocytes of choroideremia patients. PLoS One 2009 Dec 22;4(12):e8402. PMID: 20027300
  • Microarray
    Affymetrix HG-U133_Plus_2
    15 Samples Loaded: 15
    Human (Homo sapiens)
    Monocytes , Fibroblast
    Choroideremia
    Sample Set Spreadsheet
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    Samples Preview
    Sample ID !Sample_title cell type Conditions disease
    GSM437494 CHM_CD14_10 peripheral blood monocytes CD14-Choroideremia choroideremia
    GSM437495 CHM_CD14_13 peripheral blood monocytes CD14-Choroideremia choroideremia
    GSM437496 CHM_CD14_15 peripheral blood monocytes CD14-Choroideremia choroideremia
    GSM437497 CHM_FB_19 primary fibroblasts cultures Fibroblast-Choroideremia choroideremia
    GSM437498 CHM_FB_21 primary fibroblasts cultures Fibroblast-Choroideremia choroideremia
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    File
    sampleset4000092_sampleannotations.csv
    Sample Set Spreadsheet
    Raw Signal
    Raw Signal
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    Clinical Datasource
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    All fields are editable except the "Sample ID" column. To edit a cell, click within the cell. To edit a "date" cell, click on the calendar icon. To cancel an edit, press the ESC key.

    Sample ID !Sample Title Cell type Conditions Disease
    GSM437494
    CHM_CD14_10
    peripheral blood monocytes
    CD14-Choroideremia
    choroideremia
    GSM437495
    CHM_CD14_13
    peripheral blood monocytes
    CD14-Choroideremia
    choroideremia
    GSM437496
    CHM_CD14_15
    peripheral blood monocytes
    CD14-Choroideremia
    choroideremia
    GSM437497
    CHM_FB_19
    primary fibroblasts cultures
    Fibroblast-Choroideremia
    choroideremia
    GSM437498
    CHM_FB_21
    primary fibroblasts cultures
    Fibroblast-Choroideremia
    choroideremia
    GSM437499
    CHM_FB_26
    primary fibroblasts cultures
    Fibroblast-Choroideremia
    choroideremia
    GSM437500
    CHM_FB_27
    primary fibroblasts cultures
    Fibroblast-Choroideremia
    choroideremia
    GSM437501
    CHM_CD14_29
    peripheral blood monocytes
    CD14-Choroideremia
    choroideremia
    GSM437502
    CHM_CD14_7
    peripheral blood monocytes
    CD14-Choroideremia
    choroideremia
    GSM437503
    CHM_CD14_9
    peripheral blood monocytes
    CD14-Choroideremia
    choroideremia
    GSM437504
    CONT_CD14_1
    peripheral blood monocytes
    CD14-Healthy
    normal
    GSM437505
    CONT_FB_18
    primary fibroblasts cultures
    Fibroblast-Healthy
    normal
    GSM437506
    CONT_CD14_2
    peripheral blood monocytes
    CD14-Healthy
    normal
    GSM437507
    CONT_CD14_3
    peripheral blood monocytes
    CD14-Healthy
    normal
    GSM437508
    CONT_CD14_14
    peripheral blood monocytes
    CD14-Healthy
    normal

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