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Cellosaurus SJTUXHi001-A (CVCL_C0F8)

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Cell line name SJTUXHi001-A
Accession CVCL_C0F8
Resource Identification Initiative To cite this cell line use: SJTUXHi001-A (RRID:CVCL_C0F8)
Comments From: Shanghai Xinhua Hospital, Shanghai Jiao Tong University; Shanghai; China.
Population: Chinese.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:13315; HDAC8; Simple; p.Pro359Ser (c.1075C>T); Zygosity=Heterozygous (PubMed=35358829).
Disease Autism spectrum disorder (NCIt: C88412)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 5Y6M
Category Induced pluripotent stem cell
Publications

PubMed=35358829; DOI=10.1016/j.scr.2022.102756
Zi-Lin Chen, Hui Lv, Jue-Hua Yu, Shuan-Feng Fang, Fei Li;
Generation of an induced pluripotent stem cell line SJTUXHi001-A from an autism spectrum disorder patient carrying a heterozygous mutation in HDAC8 (p.P359S).
Stem Cell Res. 61:102756-102756(2022)

Cross-references
Cell line databases/resources hPSCreg; SJTUXHi001-A
Biological sample resources BioSamples; SAMEA11567036
Encyclopedic resources Wikidata; Q112930396
Entry history
Entry creation23-Jun-2022
Last entry update19-Dec-2024
Version number5