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

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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
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)

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