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000292103 1001_ $$0P:(DE-He78)c46ef00deda8baa32d5bbefbea3bedb2$$aBianchini, Luca$$b0$$eFirst author$$udkfz
000292103 245__ $$aGeneration of two isogenic patient-derived human-induced pluripotent stem cell clones with 6q27 deletion.
000292103 260__ $$aAmsterdam [u.a.]$$bElsevier$$c2024
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000292103 520__ $$aWe 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.
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000292103 7001_ $$0P:(DE-He78)a4101d4d75f0b7d1f24f67ccbe63164b$$aSieber, Laura$$b1$$udkfz
000292103 7001_ $$aHammad, Ruba$$b2
000292103 7001_ $$aSchäfer, Richard$$b3
000292103 7001_ $$0P:(DE-He78)a56d7a8e916d458441b5ac9484d73c5d$$aKutscher, Lena$$b4$$eLast author$$udkfz
000292103 773__ $$0PERI:(DE-600)2393143-7$$a10.1016/j.scr.2024.103524$$gVol. 80, p. 103524 -$$p103524$$tStem cell research$$v80$$x1873-5061$$y2024
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