Generation and characterization of an isogenic gene-corrected iPSC line CARIMi009-A-1 from a Hutchinson-Gilford Progeria Syndrome (HGPS) patient with a heterozygous G608G mutation in the LMNA gene.

Abstract excerpt

Hutchinson-Gilford Progeria Syndrome (HGPS) is an ultra-rare systemic laminopathy caused by a heterozygous point mutation in the LMNA gene encoding Lamin A/C (c.1824C > T, p.G608G). This synonymous mutation causes the production of a toxic form of Lamin A called Progerin. Integration of Progerin within the nuclear lamina disrupts cellular processes such as chromatin organization and gene transcription. Here we...

Topics

• Humans
• Progeria
• Lamin Type A
• Induced Pluripotent Stem Cells
• Heterozygote