Using patient-specific induced pluripotent stem cells to interrogate the pathogenicity of a novel retinal pigment epithelium-specific 65 kDa cryptic splice site mutation and confirm eligibility for enrollment into a clinical gene augmentation trial

Translational Research

Volumn 166, Issue 6, 2015, Pages 740-749.e1

  Tucker, Budd A ^a   Cranston, Cathryn M ^a   Anfinson, Kristin A ^a   Shrestha, Suruchi ^a   Streb, Luan M ^a   Leon, Alejandro ^b   Mullins, Robert F ^a   Stone, Edwin M ^a  

^a UNIVERSITY OF IOWA   (United States)

^b CHILDREN S HOSPITAL   (United States)

Author keywords

Abbreviations Best1 Bestrophin1; bFGF basic fibroblast growth factor; DMEM Dulbecco's Modified Eagle Medium; DNMT DNA methyltransferases; ERG Electroretinography; KLF4 Kruppel like factor 4; LB Lysogeny broth; LCA Leber congenital amaurosis; MEM minimum essential medium; MITF Microphthalmia Associated Transcription Factor; MOI multiplicity of infection; NEAA non essential amino acids; RPE Retinal pigment epithelium; RPE65 Retinal pigment epithelium specific 65 kDa; SOX2 SRY (sex determining region Y) box 2; SSEA4 Stage Specific Embryonic Antigen

Indexed keywords

DNA METHYLTRANSFERASE; ISOMERASE; KRUPPEL LIKE FACTOR 4; MESSENGER RNA; MICROPHTHALMIA ASSOCIATED TRANSCRIPTION FACTOR; MYC PROTEIN; OCTAMER TRANSCRIPTION FACTOR 4; PROTEIN ZO1; RETINAL PIGMENT EPITHELIUM SPECIFIC 65 KDA PROTEIN; TRANSCRIPTION FACTOR NANOG; TRANSCRIPTION FACTOR PAX6; TRANSCRIPTION FACTOR SOX2; UNCLASSIFIED DRUG; CIS TRANS ISOMERASE; RETINOID ISOMEROHYDROLASE;

AMINO ACID SUBSTITUTION; ARTICLE; B WAVE; CASE REPORT; CELL DIFFERENTIATION; CELL LINE; CELL NUCLEUS; CELL SPREADING; CHILD; CYTOPLASM; DARK ADAPTATION; DIVERGENT STRABISMUS; EXON; FEMALE; FRAMESHIFT MUTATION; GENE EXPRESSION; GENE SEQUENCE; HAITIAN; HUMAN; HUMAN CELL; INTRON; LEBER CONGENITAL AMAUROSIS; NONSENSE MEDIATED MRNA DECAY; PATHOGENICITY; PHOTOPIC VISION; PIGMENT EPITHELIUM; PLURIPOTENT STEM CELL; POINT MUTATION; PRESCHOOL CHILD; PRIORITY JOURNAL; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; RNA EXTRACTION; SPLICING DEFECT; STEM CELL EXPANSION; STOP CODON; VISUAL ACUITY; CYTOLOGY; GENETICS; METABOLISM; MUTATION; RETINAL PIGMENT EPITHELIUM;

CELL DIFFERENTIATION; CHILD, PRESCHOOL; CIS-TRANS-ISOMERASES; HUMANS; MUTATION; PLURIPOTENT STEM CELLS; RETINAL PIGMENT EPITHELIUM;

EID: 84960478819     PISSN: 19315244     EISSN: 18781810     Source Type: Journal    
DOI: 10.1016/j.trsl.2015.08.007     Document Type: Article

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