Two iPSC lines with frameshift mutations in FTSJ1 as models for X-linked non-syndromic intellectual disability.

Two iPSC lines with FTSJ1 frameshift mutations were created, maintaining pluripotency and differentiation capacity, to model X-linked non-syndromic intellectual disability.

• Why it matters: Mutations in the FTSJ1 gene are linked to an intellectual developmental disorder, but cellular models for studying this condition are limited, hindering understanding and potential therapies.
• What they did: Using CRISPR/Cas9, two different FTSJ1 frameshift mutations were introduced into a human male iPSC line without additional genomic changes, and these cells retained key stem cell properties.
• The result: These mutant iPSC lines can serve as models for the disease at cellular and organoid levels, enabling investigation of the disorder’s mechanisms and potential interventions.