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Cellosaurus F35T (CVCL_E2X2)

[Text version]
Cell line name F35T
Accession CVCL_E2X2
Resource Identification Initiative To cite this cell line use: F35T (RRID:CVCL_E2X2)
Comments Population: Caucasian.
Genetic integration: Method=Transduction; Gene=HGNC; HGNC:11730; TERT.
Genetic integration: Method=Transduction; Gene=UniProtKB; P03070; SV40 large T antigen.
Transformant: NCBI_TaxID; 1891767; Simian virus 40 (SV40).
Donor information: Established from a patient undergoing corneal transplant surgery (PubMed=33157036).
Miscellaneous: STR profile and donor ethnicity from personal communication of Zarouchlioti, Christina.
Caution: PubMed=38024683 and Patent=US11512312 erroneously indicate the number of CTG18.1 repeats to be ~1500.
Derived from site: In situ; Eye, cornea, endothelium; UBERON=UBERON_0001985.
Cell type: Endothelial cell of cornea; CL=CL_0000132.
Sequence variations
  • 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).
Disease Fuchs endothelial dystrophy (NCIt: C84721)
Fuchs endothelial corneal dystrophy (ORDO: Orphanet_98974)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 62Y
Category Transformed cell line
STR profile Source(s): Direct_author_submission

Markers:
AmelogeninX
CSF1PO11,12
D1S165611,17.3
D2S44112
D2S133820
D3S135815
D5S81811
D7S82011
D8S117913
D10S124813,14
D12S39118,20
D13S31711,12
D16S5399,12
D18S5114,15
D19S43313,14
D21S1129,32.2
D22S104515,16
FGA21,22
SE3326.2,27.2
TH019,9.3
TPOX8,11
vWA18

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Publications

PubMed=33157036; DOI=10.1016/j.chembiol.2020.10.007; PMCID=PMC7855261
Angelbello A.J., Benhamou R.I., Rzuczek S.G., Choudhary S., Tang Z.-Z., Chen J.L., Roy M., Wang K.W., Yildirim I., Jun A.S., Thornton C.A., Disney M.D.
A small molecule that binds an RNA repeat expansion stimulates its decay via the exosome complex.
Cell Chem. Biol. 28:34-45.e6(2021)

Patent=US11512312
Mootha V.V., Hu J.-X., Corey D.R.
Treatment of Fuchs' endothelial corneal dystrophy.
Patent number US11512312, 29-Nov-2022

PubMed=38024683; DOI=10.1021/acsomega.3c05634; PMCID=PMC10652360
Hu J.-X., Shen X.-L., Kheirabadi M., Streeter M.D., Qian Z.-Q., Mootha V.V., Corey D.R.
Targeting the expanded TCF4/Fuchs' endothelial corneal dystrophy CUG repeat with morpholino peptide conjugates.
ACS Omega 8:42797-42802(2023)

DOI=10.1101/2024.03.27.587034
Zarouchlioti C., Efthymiou S., Fracchini S., Dominik N., Bhattacharyya N.S., Liu S.-Y., Abreu Costa M., Szabo A., Sadan A.N., Jun A.S., Bugiardini E., Houlden H., Cortese A., Skalicka P., Dudakova L., Muthusamy K., Cheetham M.E., Hardcastle A.J., Liskova P., Tuft S.J., Davidson A.E.
Tissue-specific dynamics of TCF4 triplet repeat instability revealed by optical genome mapping.
bioRxiv 2024:03.27.587034-03.27.587034(2024)

Entry history
Entry creation10-Sep-2024
Last entry update19-Dec-2024
Version number2