Generation of an induced pluripotent stem cell line SJTUXHi001-A from an autism spectrum disorder patient carrying a heterozygous mutation in HDAC8 (p.P359S)
Summary
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). Copyright © 2022 The Authors. Published by Elsevier B.V. All rights reserved.
| Authors | Chen Z, Lv H, Yu J, Fang S, Li F |
|---|---|
| Journal | Stem cell research |
| Publication Date | 2022 May;61:102756 |
| PubMed | 35358829 |
| DOI | 10.1016/j.scr.2022.102756 |