Karyotypic Profiling of Induced Pluripotent Stem Cells Derived from a Xeroderma Pigmentosum Group C Patient.

ABSTRACT: Xeroderma Pigmentosum group C (XP-C) is an autosomal recessive disorder caused by mutations in the XPC gene, leading to defective nucleotide excision repair. This defect leads to genomic instability and a profound cancer predisposition. To model this disease, we generated induced pluripotent stem cells (iPSCs) from an XP-C patient carrying a novel homozygous nonsense mutation in the XPC gene (c.1830C>A). The resulting iPSCs demonstrated typical pluripotent characteristics, including expression of key markers and trilineage differentiation capability. However, genomic assessment revealed progressive karyotypic instability during extended culture. While initial whole-genome sequencing detected no major chromosomal abnormalities, subsequent G-banding analysis identified acquired

SUBMITTER: Alsalloum A 

PROVIDER: S-EPMC12732065 | biostudies-literature | 2025 Dec

REPOSITORIES: biostudies-literature