Author

Ya-Fei Zhou

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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. · Stem Cell Research · 0 citations

Case report Open access Jul 2026

A Chinese infant with CACNA1C p.C1021R variant expands clinical phenotype of CACNA1C-related disorder

By redefining CRD with TS features as a profoundly multisystem disorder, this expanded understanding facilitates improved prognostication, genetic counseling, and targeted therapeutic interventions, aiming to transform management from unpredictable complications into predictable, preventable components, ultimately enha...

Congshan Jiang, Ya-Fei Zhou, Si-Yu Zhang et al. · Molecular Genetics and Metab... · 0 citations