ID   SJTUXHi001-A
AC   CVCL_C0F8
DR   BioSamples; SAMEA11567036
DR   hPSCreg; SJTUXHi001-A
DR   Wikidata; Q112930396
RX   PubMed=35358829;
CC   From: Shanghai Xinhua Hospital, Shanghai Jiao Tong University; Shanghai; China.
CC   Population: Chinese.
CC   Sequence variation: Mutation; HGNC; 13315; HDAC8; Simple; p.Pro359Ser (c.1075C>T); Zygosity=Heterozygous (PubMed=35358829).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C88412; Autism spectrum disorder
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   5Y6M
CA   Induced pluripotent stem cell
DT   Created: 23-06-22; Last updated: 29-06-23; Version: 4
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RX   PubMed=35358829; DOI=10.1016/j.scr.2022.102756;
RA   Chen Z.-L., Lv H., Yu J.-H., Fang S.-F., Li F.;
RT   "Generation of an induced pluripotent stem cell line SJTUXHi001-A from
RT   an autism spectrum disorder patient carrying a heterozygous mutation
RT   in HDAC8 (p.P359S).";
RL   Stem Cell Res. 61:102756-102756(2022).
//