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| Item Type: | Article |
|---|---|
| Title: | Characterisation of the patient-specific induced pluripotent stem cell line UKEi075-A carrying the heterozygous PRKAG2 frameshift variant c.769_770del (p.E257Kfs*15) |
| Creators: |
Hoffmann, Benedict  ORCID: https://orcid.org/0009-0008-0165-482X, Knochenhauer, Tim, Schlobohm, Julian ORCID: https://orcid.org/0009-0007-9761-3012, Stathopoulou, Konstantina ORCID: https://orcid.org/0000-0002-3746-3055, Ulmer, Bärbel M. ORCID: https://orcid.org/0000-0001-5712-7270, Shibamiya, Aya, Laufer, Sandra D. ORCID: https://orcid.org/0000-0003-3177-7886, Schäfer, Sarina, Krämer, Elisabeth, Fuchs, Sigrid, Augustin, Christa, Girdauskas, Evaldas, Demal, Till J. ORCID: https://orcid.org/0000-0001-8978-9914, Klaassen, Sabine ORCID: https://orcid.org/0000-0001-5925-9912, Zeller, Tanja, Blankenberg, Stefan ORCID: https://orcid.org/0000-0001-6488-2362, Eschenhagen, Thomas ORCID: https://orcid.org/0000-0003-1750-1170 and Cuello, Friederike ORCID: https://orcid.org/0000-0003-1612-1715
|
| Abstract: | Missense variants in PRKAG2, the gene encoding for the γ2-subunit of adenosine monophosphate-activated protein kinase (AMPK), can cause hypertrophic cardiomyopathy, cardiac conduction defects and glycogen storage disorders. Clinical consequences evoked by truncating PRKAG2 variants are poorly understood. Dermal fibroblasts of a male dilated cardiomyopathy-patient carrying the truncating PRKAG2 variant c.769_770del (p.E257Kfs*15) at a heterozygous state were reprogrammed by Sendai virus-mediated expression of OCT-4, SOX2, c-Myc and KLF4 to human induced pluripotent stem cells (hiPSCs). HiPSCs displayed a normal karyotype, high pluripotency, mycoplasma-absence and were successfully differentiated into three primary germ layers. This hiPSC-line will enable analysing molecular pathomechanisms underlying PRKAG2-cardiomyopathy. |
| Source: | Stem Cell Research |
| ISSN: | 1873-5061 |
| Publisher: | Elsevier |
| Volume: | 97 |
| Page Range: | 104123 |
| Date: | December 2026 |
| Official Publication: | https://doi.org/10.1016/j.scr.2026.104123 |
| PubMed: | View item in PubMed |
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