Generation of two isogenic patient-derived human-induced pluripotent stem cell clones with 6q27 deletion
Abstract: We generated two human induced pluripotent cell (hiPSC) isogenic clones from an 11-year-old patient with 6q27 deletion syndrome. The heterozygous deletion encompasses approximately 240 kilobases, affecting 6 genes (promoter region of WDR27, coding regions of C6orf120, PHF10, DYNLT2, ERMARD, LINC00242). The patient suffered from epilepsy, psychosocial retardation, and a metabolic disorder. The patient also had a history of SHH-medulloblastoma as an infant. The generated hiPSCs represent a useful tool for modelling 6q27 deletion syndrome in vitro and understanding the molecular basis of the disorder
- Standort
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Deutsche Nationalbibliothek Frankfurt am Main
- Umfang
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Online-Ressource
- Sprache
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Englisch
- Anmerkungen
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Stem cell research. - 80 (2024) , 103524, ISSN: 1873-5061
- Ereignis
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Veröffentlichung
- (wo)
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Freiburg
- (wer)
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Universität
- (wann)
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2024
- Urheber
- DOI
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10.1016/j.scr.2024.103524
- URN
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urn:nbn:de:bsz:25-freidok-2564808
- Rechteinformation
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Open Access; Der Zugriff auf das Objekt ist unbeschränkt möglich.
- Letzte Aktualisierung
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15.08.2025, 07:25 MESZ
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Beteiligte
- Bianchini, Luca
- Sieber, Laura
- Hammad, Ruba
- Schäfer, Richard
- Kutscher, Lena
- Universität
Entstanden
- 2024
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