TY  - JOUR
AU  - Bianchini, Luca
AU  - Sieber, Laura
AU  - Hammad, Ruba
AU  - Schäfer, Richard
AU  - Kutscher, Lena
TI  - Generation of two isogenic patient-derived human-induced pluripotent stem cell clones with 6q27 deletion.
JO  - Stem cell research
VL  - 80
SN  - 1873-5061
CY  - Amsterdam [u.a.]
PB  - Elsevier
M1  - DKFZ-2024-01602
SP  - 103524
PY  - 2024
N1  - #EA:B430#LA:B430#
AB  - 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.
LB  - PUB:(DE-HGF)16
C6  - pmid:39106599
DO  - DOI:10.1016/j.scr.2024.103524
UR  - https://inrepo02.dkfz.de/record/292103
ER  -