Generation of two isogenic patient-derived human-induced pluripotent stem cell clones with 6q27 deletion

Luca Bianchini; Laura Sieber; Ruba Hammad; Richard Schäfer; Lena M Kutscher

doi:10.1016/j.scr.2024.103524

Generation of two isogenic patient-derived human-induced pluripotent stem cell clones with 6q27 deletion

Stem Cell Res. 2024 Oct:80:103524. doi: 10.1016/j.scr.2024.103524. Epub 2024 Jul 31.

Authors

Luca Bianchini¹, Laura Sieber¹, Ruba Hammad², Richard Schäfer³, Lena M Kutscher⁴

Affiliations

¹ Developmental Origins of Pediatric Cancer Junior Research Group, German Cancer Research Center (DKFZ), Heidelberg, Germany; Hopp Children's Cancer Center (KiTZ), Heidelberg, Germany.
² Institute for Transfusion Medicine and Gene Therapy, Medical Center-University of Freiburg, Freiburg, Germany; Center for Chronic Immunodeficiency (CCI), Medical Center-University of Freiburg, Freiburg, Germany; Freiburg iPS Core, Medical Center-University of Freiburg, Freiburg, Germany; Faculty of Biology, University of Freiburg, Freiburg, Germany.
³ Institute for Transfusion Medicine and Gene Therapy, Medical Center-University of Freiburg, Freiburg, Germany; Center for Chronic Immunodeficiency (CCI), Medical Center-University of Freiburg, Freiburg, Germany; Freiburg iPS Core, Medical Center-University of Freiburg, Freiburg, Germany.
⁴ Developmental Origins of Pediatric Cancer Junior Research Group, German Cancer Research Center (DKFZ), Heidelberg, Germany; Hopp Children's Cancer Center (KiTZ), Heidelberg, Germany. Electronic address: [email protected].

PMID: 39106599
DOI: 10.1016/j.scr.2024.103524

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.

Publication types

Case Reports

MeSH terms

Child
Chromosome Deletion*
Chromosomes, Human, Pair 6 / genetics
Clone Cells
Humans
Induced Pluripotent Stem Cells* / metabolism
Male