ID   F35T
AC   CVCL_E2X2
RX   DOI=10.1101/2024.03.27.587034;
RX   Patent=US11512312;
RX   PubMed=33157036;
RX   PubMed=38024683;
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:11634; TCF4; Repeat_expansion; g.54765TGC[~4500] (g.54765TGC[51_?]) (CTG18.1); ClinVar=VCV000204360; Zygosity=Heterozygous; Note=The other allele has 21 repeats (PubMed=33157036).
CC   Genetic integration: Method=Transduction; Gene=HGNC; HGNC:11730; TERT.
CC   Genetic integration: Method=Transduction; Gene=UniProtKB; P03070; SV40 large T antigen.
CC   Transformant: NCBI_TaxID; 1891767; Simian virus 40 (SV40).
CC   Donor information: Established from a patient undergoing corneal transplant surgery (PubMed=33157036).
CC   Miscellaneous: STR profile and donor ethnicity from personal communication of Zarouchlioti, Christina.
CC   Caution: PubMed=38024683 and Patent=US11512312 erroneously indicate the number of CTG18.1 repeats to be ~1500.
CC   Derived from site: In situ; Eye, cornea, endothelium; UBERON=UBERON_0001985.
CC   Cell type: Endothelial cell of cornea; CL=CL_0000132.
ST   Source(s): Direct_author_submission
ST   Amelogenin: X
ST   CSF1PO: 11,12
ST   D10S1248: 13,14
ST   D12S391: 18,20
ST   D13S317: 11,12
ST   D16S539: 9,12
ST   D18S51: 14,15
ST   D19S433: 13,14
ST   D1S1656: 11,17.3
ST   D21S11: 29,32.2
ST   D22S1045: 15,16
ST   D2S1338: 20
ST   D2S441: 12
ST   D3S1358: 15
ST   D5S818: 11
ST   D7S820: 11
ST   D8S1179: 13
ST   FGA: 21,22
ST   SE33: 26.2,27.2
ST   TH01: 9,9.3
ST   TPOX: 8,11
ST   vWA: 18
DI   NCIt; C84721; Fuchs endothelial dystrophy
DI   ORDO; Orphanet_98974; Fuchs endothelial corneal dystrophy
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   62Y
CA   Transformed cell line
DT   Created: 10-09-24; Last updated: 19-12-24; Version: 2
//
RX   DOI=10.1101/2024.03.27.587034;
RA   Zarouchlioti C., Efthymiou S., Fracchini S., Dominik N.,
RA   Bhattacharyya N.S., Liu S.-Y., Abreu Costa M., Szabo A., Sadan A.N.,
RA   Jun A.S., Bugiardini E., Houlden H., Cortese A., Skalicka P.,
RA   Dudakova L., Muthusamy K., Cheetham M.E., Hardcastle A.J.,
RA   Liskova P., Tuft S.J., Davidson A.E.;
RT   "Tissue-specific dynamics of TCF4 triplet repeat instability revealed by
RT   optical genome mapping.";
RL   bioRxiv 2024:03.27.587034-03.27.587034(2024).
//
RX   Patent=US11512312;
RA   Mootha V.V., Hu J.-X., Corey D.R.;
RT   "Treatment of Fuchs' endothelial corneal dystrophy.";
RL   Patent number US11512312, 29-Nov-2022.
//
RX   PubMed=33157036; DOI=10.1016/j.chembiol.2020.10.007; PMCID=PMC7855261;
RA   Angelbello A.J., Benhamou R.I., Rzuczek S.G., Choudhary S., Tang Z.-Z.,
RA   Chen J.L., Roy M., Wang K.W., Yildirim I., Jun A.S., Thornton C.A.,
RA   Disney M.D.;
RT   "A small molecule that binds an RNA repeat expansion stimulates its
RT   decay via the exosome complex.";
RL   Cell Chem. Biol. 28:34-45.e6(2021).
//
RX   PubMed=38024683; DOI=10.1021/acsomega.3c05634; PMCID=PMC10652360;
RA   Hu J.-X., Shen X.-L., Kheirabadi M., Streeter M.D., Qian Z.-Q.,
RA   Mootha V.V., Corey D.R.;
RT   "Targeting the expanded TCF4/Fuchs' endothelial corneal dystrophy CUG
RT   repeat with morpholino peptide conjugates.";
RL   ACS Omega 8:42797-42802(2023).
//