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Cellosaurus SDQLCHi072-A (CVCL_D4ZV)

[Text version]
Cell line name SDQLCHi072-A
Accession CVCL_D4ZV
Resource Identification Initiative To cite this cell line use: SDQLCHi072-A (RRID:CVCL_D4ZV)
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:14262; AUTS2; Simple; p.Ala1020Val (c.3059C>T); Zygosity=Heterozygous; Note=De novo mutation (PubMed=39276529).
Disease Autism spectrum disorder (NCIt: C88412)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 7M
Category Induced pluripotent stem cell
Publications

PubMed=39276529; DOI=10.1016/j.scr.2024.103554
Li Z.-L., Li Z.-B., Lv Y.-Q., Gao M., Liu N., Gai Z.-T., Liu Q.-J.
Establishment of a non-integrated iPS cell line (SDQLCHi072-A) from a patient suffered from AUTS2 syndrome.
Stem Cell Res. 81:103554-103554(2024)

Cross-references
Cell line databases/resources hPSCreg; SDQLCHi072-A
Biological sample resources BioSamples; SAMEA115879341
Encyclopedic resources Wikidata; Q127384281
Entry history
Entry creation02-May-2024
Last entry update19-Dec-2024
Version number3