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

Shwachman Diamond Syndrome (SDS) is an inherited bone marrow failure and leukemia predisposition syndrome characterized by exocrine pancreatic insufficiency, skeletal dysplasia and bone marrow failure. SDS is inherited in an autosomal recessive manner and most patients with SDS carry biallelic mutations in the SBDS gene. We generated an iPSC line from a patient biallelic SBDS mutations (c.258 + 2 T > C & c.183-184delinsCT(p.Lys62*) along with a corresponding isogenic control line correcting the splice site mutation with a cytosine base editor.