ID   iPSC SZT2 I.I +/Mut1
AC   CVCL_D6L4
DR   Wikidata; Q127382391
RX   PubMed=36361881;
CC   From: EURAC Research Institute for Biomedicine; Bolzano; Italy.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:29040; SZT2; Simple; p.Arg2242Trp (c.6724C>T) (p.Arg2185Trp, c.6553C>T); ClinVar=VCV000429775; Zygosity=Heterozygous (PubMed=36361881).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
CA   Induced pluripotent stem cell
DT   Created: 02-05-24; Last updated: 19-12-24; Version: 3
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RX   PubMed=36361881; DOI=10.3390/ijms232113095; PMCID=PMC9654488;
RA   Cattelani C., Battistella I., Di Leva F., Fioravanti G.,
RA   Benedicenti F., Stanzial F., Schwienbacher C., Fanelli F.,
RA   Pramstaller P.P., Hicks A.A., Conti L., Corti C.;
RT   "Induced pluripotent stem cell (iPSC) lines from a family with
RT   resistant epileptic encephalopathy caused by compound heterozygous
RT   mutations in SZT2 gene.";
RL   Int. J. Mol. Sci. 23:13095.1-13095.10(2022).
//