Generation of an induced pluripotent stem cell line SJTUXHi001-A from an autism spectrum disorder patient carrying a heterozygous mutation in HDAC8 (p.P359S)

[摘要] Mutations in the HDAC8 are considered to be a prominent cause of Cornelia de Lange syndrome 5, a leading cause of intellectual disability and social disability. Here, we report the generation of an induced pluripotent stem cell (iPSC) line from a 5-year-old girl diagnosed with autism spectrum disorder (ASD) who carries a heterozygous mutation in HDAC8 (c.1075C > T, p.Pro359Ser).

[学科分类] 生理学