11 Matching Annotations
  1. Last 7 days
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    Generation of an induced pluripotent stem cell line from a long QT syndrome type 1 patient carrying the KCNQ1 c.343G > A p.(E115K) variant
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    sciencedirect.com/science/article/pii/S1873506126002047
  3. Jun 2026
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    Generation of two iPSC lines each carrying a stop codon mutation, c.366T > A (p.Y122X) and c.1657C > T (p.R553X), in the CFTR gene from the parental line PCIi033-A using CRISPR/Cas9
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    sciencedirect.com/science/article/pii/S1873506126001200
  5. May 2026
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    Generation of two iPSC lines carrying two cystic fibrosis rare intronic mutations c.1585-1G>A and c.1680-886A>G in the CFTR gene of the parental line PCIi033-A using CRISPR/Cas tools
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    sciencedirect.com/science/article/pii/S1873506126001121
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    Characterization of an induced pluripotent stem cell line from a long QT syndrome type 1 patient possessing the KCNQ1 c.691C > T (p.Arg231Cys) variant
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    sciencedirect.com/science/article/pii/S1873506126000565
  8. Apr 2026
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    Derivation of an induced pluripotent stem cell line from a long QT syndrome type 1 patient with a pathogenic KCNQ1 c.1552C > T (p.Arg518Ter) variant
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    sciencedirect.com/science/article/pii/S1873506126000942
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    CRISPR-Cas9 genome editing in the parental iPSC line PCIi033-A to introduce the homozygous mutation p.F508del (c.1521_1523del) in the CFTR gene
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    sciencedirect.com/science/article/pii/S1873506126000437
  11. Sep 2025
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    Generation of three induced pluripotent stem cell lines from a long QT syndrome type 2 family harboring the pathogenic KCNH2 c.209A > G (p.His70Arg) variant
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    sciencedirect.com/science/article/pii/S1873506125001771
  13. Jul 2024
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    Generation of an induced pluripotent stem cell line (BIORTCi001-A) from a healthy adult indigenous Nigerian participant
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    sciencedirect.com/science/article/pii/S1873506124002010
  15. Feb 2024
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    Generation and characterization of a human iPSC line and gene-corrected isogenic line derived from a patient with a CELF2 gene mutation
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    sciencedirect.com/science/article/pii/S1873506124000424
  17. Jun 2023
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    Generation of an induced pluripotent stem cell line from a patient with conduction disease and recurrent ventricular fibrillation with a sodium voltage-gated channel alpha subunit 5 (SCN5A) gene c.392+3A>G splice-site variant
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    sciencedirect.com/science/article/pii/S1873506123001393