Generation and characterization of a human iPSC line (XACHi022-A) derived from an asymptomatic carrier of the GAA c.2051C > A (p.P684Q) variant.

Abstract

Pompe disease is a lysosomal-store age disorder with GAA mutation. We collected a Pompe disease family with c.2051C > A (p.P684Q) and c.2024_2026 delACA (p. N675del) variants in GAA. In this study, we generated a human induced pluripotent stem cell (iPSC) line from an asymptomatic woman carrying c.2051C > A (p.P684Q) variant in GAA. The iPSC line exhibited characteristic stem cell morphology, robust expression of pluripotency and proliferation-associated proteins, a standard karyotype, and the capacity to differentiate into trilineage. The iPSC line can serve as a family-based control for the patient, which provides a well-characterized, patient-derived genetic background that is essential for isogenic control studies.