CRISPR/Cas9-Mediated Generation of COL7A1-Deficient Keratinocyte Model of Recessive Dystrophic Epidermolysis Bullosa
June 2023
in “
bioRxiv (Cold Spring Harbor Laboratory)
”
TLDR Scientists created cell lines to study a genetic skin disorder using CRISPR technology.
This study successfully developed multiple immortalized COL7A1-deficient keratinocyte cell lines using CRISPR/Cas9 technology to model recessive dystrophic epidermolysis bullosa (RDEB), a genetic skin disorder. The researchers achieved a 46.1% efficiency in inducing indels, primarily deletions, in the targeted gene. They isolated and characterized two homozygous and two heterozygous COL7A1-deficient cell lines, confirming the absence of type VII collagen expression and increased cell motility. These cell lines serve as a valuable model for studying RDEB pathology and exploring new therapeutic strategies.