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Cellosaurus (CVCL_ZK40)

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Comments Genetic integration: Method=Transduction; Gene=HGNC; HGNC:11730; TERT.
Genetic integration: Method=Transduction; Gene=UniProtKB; P03070; Simian virus 40 (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 Cricetulus griseus (Chinese hamster) (Cricetulus barabensis griseus) (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
D10S124813,14
D12S39118,20
D13S31711,12
D16S5399,12
D18S5114,15
D19S43313,14
D1S165611,17.3
D21S1129,32.2
D22S104515,16
D2S133820
D2S44112
D3S135815
D5S81811
D7S82011
D8S117913
FGA21,22
SE3326.2,27.2
TH019,9.3
TPOX8,11
vWA18

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Entry history
Entry creation10-Sep-2024
Last entry update14-Aug-2025
Version number3