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Wen-Jun Huang

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Open access Oct 2026

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

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) v...

Ya-Fei Zhou, Rui Zhou, Wen-Jun Huang et al. · 0 citations

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