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.

A human iPSC line carrying a de novo PHF21A variant was generated from an infant with epileptic spasms syndrome, providing a new model for studying the disease.

• Why it matters: IESS is a severe early-onset epileptic encephalopathy with limited cellular models, and understanding PHF21A's role could reveal mechanisms underlying the condition.
• What they did: Researchers derived the PKUHSCi001-A iPSC line from an 11-month-old patient’s blood cells, confirming the presence of the PHF21A variant and its pluripotent capabilities.
• The result: This iPSC line retains the genetic variant, exhibits normal morphology and karyotype, and can differentiate into all three germ layers, enabling future functional studies of PHF21A-related epilepsy.