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Cellosaurus iPSC SZT2 I.I +/Mut1 (CVCL_D6L4)

[Text version]
Cell line name iPSC SZT2 I.I +/Mut1
Accession CVCL_D6L4
Resource Identification Initiative To cite this cell line use: iPSC SZT2 I.I +/Mut1 (RRID:CVCL_D6L4)
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.Arg2242Trp (c.6724C>T) (p.Arg2185Trp, c.6553C>T); ClinVar=VCV000429775; Zygosity=Heterozygous (PubMed=36361881).
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
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)

Cross-references
Encyclopedic resources Wikidata; Q127382391
Entry history
Entry creation02-May-2024
Last entry update19-Dec-2024
Version number3