ID   7349-3
AC   CVCL_E4K1
RX   PubMed=36202854;
CC   Sequence variation: Gene deletion; HGNC; HGNC:14294; SHANK3; Zygosity=Heterozygous (Direct_author_submission).
CC   Miscellaneous: Sequence variation, sampling site and cell type from personal communication of Ullah, H.M. Arif.
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C88412; Autism spectrum disorder
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   Age unspecified
CA   Induced pluripotent stem cell
DT   Created: 19-12-24; Last updated: 19-12-24; Version: 1
//
RX   PubMed=36202854; DOI=10.1038/s41467-022-33364-z; PMCID=PMC9537523;
RA   Wang Y.-Q., Chiola S., Yang G., Russell C., Armstrong C.J., Wu Y.-Y.,
RA   Spampanato J.G., Tarboton P., Ullah H.M.A., Edgar N.U., Chang A.N.,
RA   Harmin D.A., Bocchi V.D., Vezzoli E., Besusso D., Cui J., Cattaneo E.,
RA   Kubanek J., Shcheglovitov A.;
RT   "Modeling human telencephalic development and autism-associated SHANK3
RT   deficiency using organoids generated from single neural rosettes.";
RL   Nat. Commun. 13:5688.1-5688.25(2022).
//