Cellosaurus cell line iPSC SZT2 I.II +/Mut2 (CVCL

Cross-references
Cell line name	iPSC SZT2 I.II +/Mut2
Accession	CVCL_D6L5
Resource Identification Initiative	To cite this cell line use: iPSC SZT2 I.II +/Mut2 (RRID:CVCL_D6L5)
Comments	From: EURAC Research Institute for Biomedicine; Bolzano; Italy. Population: Caucasian. Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations	Mutation; HGNC; HGNC:29040; SZT2; Simple; p.Gln166His (c.498G>T); ClinVar=VCV000559530; Zygosity=Heterozygous (PubMed=36361881).
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Female
Category	Induced pluripotent stem cell
Publications	PubMed=36361881; DOI=10.3390/ijms232113095; PMCID=PMC9654488 Cattelani C., Battistella I., Di Leva F., Fioravanti G., Benedicenti F., Stanzial F., Schwienbacher C., Fanelli F., Pramstaller P.P., Hicks A.A., Conti L., Corti C. Induced pluripotent stem cell (iPSC) lines from a family with resistant epileptic encephalopathy caused by compound heterozygous mutations in SZT2 gene. Int. J. Mol. Sci. 23:13095.1-13095.10(2022)
Encyclopedic resources	Wikidata; Q127382392
Entry history
Entry creation	02-May-2024
Last entry update	19-Dec-2024
Version number	3