Generation of induced pluripotent stem cell lines TRNDi045-A-40 and TRNDi045-A-41 modeling mucopolysaccharidosis type IIIA and type I from parental KOLF2.1J.

Two human iPSC lines modeling mucopolysaccharidosis types IIIA and I with specific pathogenic variants were generated from KOLF2.1J cells.

• Why it matters: MPS are lysosomal storage disorders caused by enzyme deficiencies that impair glycosaminoglycan degradation, leading to multisystem disease, highlighting the need for disease models to study mechanisms and therapies.
• What they did: Researchers used CRISPR/Cas9 to introduce homozygous pathogenic variants into KOLF2.1J cells, creating lines TRNDi045-A-40 with a SGSH c.734G>A mutation and TRNDi045-A-41 with an IDUA c.1205-1206 GG>AA mutation, modeling MPS IIIA and I respectively.
• The result: The resulting iPSC lines are pluripotent, genetically validated, and support studies of disease mechanisms and therapies for MPS IIIA and MPS I.