%0 Journal Article
%A Bianchini, Luca
%A Sieber, Laura
%A Hammad, Ruba
%A Schäfer, Richard
%A Kutscher, Lena
%T Generation of two isogenic patient-derived human-induced pluripotent stem cell clones with 6q27 deletion.
%J Stem cell research
%V 80
%@ 1873-5061
%C Amsterdam [u.a.]
%I Elsevier
%M DKFZ-2024-01602
%P 103524
%D 2024
%Z #EA:B430#LA:B430#
%X 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.
%F PUB:(DE-HGF)16
%9 Journal Article
%$ pmid:39106599
%R 10.1016/j.scr.2024.103524
%U https://inrepo02.dkfz.de/record/292103