Ya-Ming Yang

Generation of a human induced pluripotent stem cell line, PKUHSCi001-A, from a patient with infantile epileptic spasms syndrome carrying a de novo PHF21A variant.

Infantile epileptic spasms syndrome (IESS) is a severe, early-onset epileptic encephalopathy in which PHF21A has recently emerged as a candidate disease gene, and until now no patient-derived cell model carrying a PHF21A variant has existed. We derived an induced pluripotent stem cell (iPSC) line, PKUHSCi001-A, from bl...