Generation of iPSC and isogenic gene-corrected lines from a patient with Shwachman Diamond syndrome.

An iPSC line from a patient with biallelic SBDS mutations and an isogenic gene-corrected control were generated for SDS research.

• Why it matters: SDS involves bone marrow failure and leukemia risk, with most patients carrying specific SBDS mutations, highlighting the need for cellular models to study disease mechanisms and potential therapies.
• What they did: Researchers created an iPSC line from a patient with SDS carrying two SBDS mutations and developed a gene-corrected isogenic control line using a cytosine base editor to correct the splice site mutation.
• The result: This work provides a platform for studying SDS pathogenesis and testing therapeutic strategies by comparing patient-derived and gene-corrected iPSC lines.