Cellosaurus cell line iPSC STZ2 II.4 Mut1/Mut2 (CVCL

Cross-references
Cell line name	iPSC STZ2 II.4 Mut1/Mut2
Accession	CVCL_D6L3
Resource Identification Initiative	To cite this cell line use: iPSC STZ2 II.4 Mut1/Mut2 (RRID:CVCL_D6L3)
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). Mutation; HGNC; HGNC:29040; SZT2; Simple; p.Arg2242Trp (c.6724C>T) (p.Arg2185Trp, c.6553C>T); ClinVar=VCV000429775; Zygosity=Heterozygous (PubMed=36361881).
Disease	Developmental and epileptic encephalopathy 18 (NCIt: C206098) Non-specific early-onset epileptic encephalopathy (ORDO: Orphanet_442835)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Male
Age at sampling	29Y
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; Q127382393
Entry history
Entry creation	02-May-2024
Last entry update	19-Dec-2024
Version number	3