Home > Publications database > Generation of two isogenic patient-derived human-induced pluripotent stem cell clones with 6q27 deletion. > print

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005     20250814105903.0
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100 1 _ |a Bianchini, Luca
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245 _ _ |a Generation of two isogenic patient-derived human-induced pluripotent stem cell clones with 6q27 deletion.
260 _ _ |a Amsterdam [u.a.]
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520 _ _ |a 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.
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700 1 _ |a Sieber, Laura
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700 1 _ |a Hammad, Ruba
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700 1 _ |a Schäfer, Richard
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700 1 _ |a Kutscher, Lena
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773 _ _ |a 10.1016/j.scr.2024.103524
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856 4 _ |u https://inrepo02.dkfz.de/record/292103/files/1-s2.0-S1873506124002228-main.pdf
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