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Cellosaurus 7349-3 (CVCL_E4K1)

[Text version]
Cell line name 7349-3
Accession CVCL_E4K1
Resource Identification Initiative To cite this cell line use: 7349-3 (RRID:CVCL_E4K1)
Comments Miscellaneous: Sequence variation, sampling site and cell type from personal communication of Ullah, H.M. Arif.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Gene deletion; HGNC; HGNC:14294; SHANK3; Zygosity=Heterozygous (Direct_author_submission).
Disease Autism spectrum disorder (NCIt: C88412)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling Age unspecified
Category Induced pluripotent stem cell
Publications

PubMed=36202854; DOI=10.1038/s41467-022-33364-z; PMCID=PMC9537523
Wang Y.-Q., Chiola S., Yang G., Russell C., Armstrong C.J., Wu Y.-Y., Spampanato J.G., Tarboton P., Ullah H.M.A., Edgar N.U., Chang A.N., Harmin D.A., Bocchi V.D., Vezzoli E., Besusso D., Cui J., Cattaneo E., Kubanek J., Shcheglovitov A.
Modeling human telencephalic development and autism-associated SHANK3 deficiency using organoids generated from single neural rosettes.
Nat. Commun. 13:5688.1-5688.25(2022)

Entry history
Entry creation19-Dec-2024
Last entry update19-Dec-2024
Version number1