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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
Yue-Qi Wang, Simone Chiola, Guang Yang, Chad Russell, Celeste J. Armstrong, Yuan-Yuan Wu, Jay G. Spampanato, Paisley Tarboton, H.M. Arif Ullah, Nicolas U. Edgar, Amelia N. Chang ...Show all 19 authors... , David A. Harmin, Vittoria Dickinson Bocchi, Elena Vezzoli, Dario Besusso, Jun Cui, Elena Cattaneo, Jan Kubanek, Aleksandr Shcheglovitov; Show fewer authors
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