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

A human iPSC line from an asymptomatic woman carrying the GAA c.2051C>A (p.P684Q) variant was successfully generated, exhibiting typical stem cell features and differentiation capacity.

• Why it matters: Pompe disease is caused by GAA mutations, and understanding the genetic background of asymptomatic carriers can aid in studying disease mechanisms and developing controls. This work addresses the need for well-characterized, patient-derived models for genetic research and potential therapies.
• What they did: Researchers generated an iPSC line from an asymptomatic carrier with the c.2051C>A (p.P684Q) GAA variant, confirming characteristic morphology, pluripotency marker expression, normal karyotype, and trilineage differentiation ability.
• The result: This iPSC line provides a valuable family-based control for Pompe disease studies, enabling isogenic comparisons and advancing understanding of genetic factors influencing disease expression.