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Cellosaurus SDQLCHi060-A (CVCL_C9JK)

[Text version]
Cell line name SDQLCHi060-A
Accession CVCL_C9JK
Resource Identification Initiative To cite this cell line use: SDQLCHi060-A (RRID:CVCL_C9JK)
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; 14262; AUTS2; Simple; p.Gln496Ter (c.1486C>T); Zygosity=Heterozygous (PubMed=37948839).
Disease Autism spectrum disorder (NCIt: C88412)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 1Y9M
Category Induced pluripotent stem cell
Publications

PubMed=37948839; DOI=10.1016/j.scr.2023.103242
Gao C.-L., Liu Y., Liu N., Li Z.-L., Yang X.-M., Yang Y.-N., Xi Y., Tian J.-J., Gai Z.-T.
Establishment of human induced pluripotent stem cell line (SDQLCHi060-A) from a patient with AUTS2 syndrome carrying a heterozygous mutation in AUTS2 gene.
Stem Cell Res. 73:103242-103242(2023)

Cross-references
Cell line databases/resources hPSCreg; SDQLCHi060-A
Encyclopedic resources Wikidata; Q123033469
Entry history
Entry creation05-Oct-2023
Last entry update02-May-2024
Version number3