Journal Article

DKFZ-2024-01602

http://join2-wiki.gsi.de/foswiki/pub/Main/Artwork/join2_logo100x88.png Generation of two isogenic patient-derived human-induced pluripotent stem cell clones with 6q27 deletion.

Bianchini, L. (First author)DKFZ* ; Sieber, L.DKFZ* ; Hammad, R. ; Schäfer, R. ; Kutscher, L. (Last author)DKFZ*

2024
Elsevier Amsterdam [u.a.]

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Please use a persistent id in citations: 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.

Note: #EA:B430#LA:B430#

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Contributing Institute(s):

1. Entwicklungsbiolog. Ursprünge pädiatrischer Krebserkrankungen (B430)

Research Program(s):

1. 312 - Funktionelle und strukturelle Genomforschung (POF4-312) (POF4-312)

Appears in the scientific report 2024

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