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Generation of a patient-specific hiPS cell line with heterozygous GNB2 mutation (UKMi003-A) causative for human sinus node dysfunction and a corresponding CRISPR/Cas9-corrected isogenic control (UKMi004-A).
Kayser, Anne; Dittmann, Sven; Hamidi, Jassin; Laufer, Sandra D; Krampe, Ramona; Mearini, Giulia; Hansen, Arne; Schulze-Bahr, Eric.
Afiliación
  • Kayser A; Institute for Genetics of Heart Diseases (IfGH), University Hospital Münster, Münster, Germany.
  • Dittmann S; Institute for Genetics of Heart Diseases (IfGH), University Hospital Münster, Münster, Germany. Electronic address: sven.dittmann@ukmuenster.de.
  • Hamidi J; Institute for Genetics of Heart Diseases (IfGH), University Hospital Münster, Münster, Germany.
  • Laufer SD; Department of Experimental Pharmacology and Toxicology, University Medical Center Hamburg-Eppendorf, Hamburg, Germany; III. Department of Medicine & Hamburg Center for Kidney Health, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
  • Krampe R; Institute for Genetics of Heart Diseases (IfGH), University Hospital Münster, Münster, Germany.
  • Mearini G; Department of Experimental Pharmacology and Toxicology, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
  • Hansen A; Department of Experimental Pharmacology and Toxicology, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
  • Schulze-Bahr E; Institute for Genetics of Heart Diseases (IfGH), University Hospital Münster, Münster, Germany.
Stem Cell Res ; 78: 103446, 2024 Aug.
Article en En | MEDLINE | ID: mdl-38776645
ABSTRACT
The heterozygous mutation c.155G > T in GNB2 clinically leads to sinus bradycardia and sinus node dysfunction. Here, patient-specific skin fibroblasts of the mutation carrier were used for Sendai virus reprogramming into human induced-pluripotent stem cells (hiPSC). For generating the isogenic control cell line, a CRISPR/Cas9-mediated HDR-repair of the hiPSCs was carried out. Both generated cell lines (GNB2 SV5528, GNB2 K26) maintained a normal karyotype, cell morphology, pluripotency in immunofluoresence and RT-qPCR analysis. Both hiPSC-lines showed differentiation potential into all three germ layers. Differentiated cardiomyocytes of this isogenic set may pave the way for investigating pharmacological rescue strategies for sinus node dysfunction.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Células Madre Pluripotentes Inducidas / Sistemas CRISPR-Cas / Mutación Límite: Humans Idioma: En Revista: Stem Cell Res Año: 2024 Tipo del documento: Article País de afiliación: Alemania Pais de publicación: Reino Unido
Texto completo
Añadir a Mi BVS
Imprimir
XML
PubMed Links
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Células Madre Pluripotentes Inducidas / Sistemas CRISPR-Cas / Mutación Límite: Humans Idioma: En Revista: Stem Cell Res Año: 2024 Tipo del documento: Article País de afiliación: Alemania Pais de publicación: Reino Unido