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

Cellosaurus iPSC STZ2 II.4 Mut1/Mut2 (CVCL_D6L3)

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 Cecilia Cattelani, Ingrid Battistella, Francesca Di Leva, Giulia Fioravanti, Francesco Benedicenti, Franco Stanzial, Christine Schwienbacher, Francesca Fanelli, Peter P. Pramstaller, Andrew A. Hicks, Luciano Conti, Corrado Corti; 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