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Cellosaurus SDQLCHi051-A (CVCL_C8DW)

[Text version]
Cell line name SDQLCHi051-A
Accession CVCL_C8DW
Resource Identification Initiative To cite this cell line use: SDQLCHi051-A (RRID:CVCL_C8DW)
Comments From: Qilu Children's Hospital of Shandong University; Jinan; China.
Population: Chinese; Han.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:20153; CHD8; Simple; p.Ile1292Met (c.3876T>G); Zygosity=Heterozygous (PubMed=37229974).
  • Mutation; HGNC; HGNC:20153; CHD8; Simple; p.Arg2243His (c.6728G>A); Zygosity=Heterozygous (PubMed=37229974).
Disease Autism spectrum disorder (NCIt: C88412)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 4Y
Category Induced pluripotent stem cell
Publications

PubMed=37229974; DOI=10.1016/j.scr.2023.103114
Fan Y.-X., Li Y., Yang X.-M., Zhang H.-Y., Wang B., Guan J.-Y., Gao J.-N., Ma X., Liu Y.
Generation and characterization of PBMCs-derived human induced pluripotent stem cell (iPSC) line SDQLCHi051-A from an autism spectrum disorder patient with compound CHD8 gene mutations.
Stem Cell Res. 69:103114-103114(2023)

Cross-references
Cell line databases/resources hPSCreg; SDQLCHi051-A
Encyclopedic resources Wikidata; Q123033458
Entry history
Entry creation29-Jun-2023
Last entry update19-Dec-2024
Version number3