Cellosaurus cell line imHCE_GDLD (CVCL

Cellosaurus imHCE_GDLD (CVCL_T054)

Cross-references
Cell line name	imHCE_GDLD
Synonyms	immortalized Human Conjunctival Epithelial cells from Gelatinous Drop-Like Corneal Dystrophy patient
Accession	CVCL_T054
Resource Identification Initiative	To cite this cell line use: imHCE_GDLD (RRID:CVCL_T054)
Comments	Genetic integration: Method=Transduction; Gene=HGNC; HGNC:11730; TERT. Genetic integration: Method=Transduction; Gene=UniProtKB; P03070; SV40 large T antigen. Genetic integration: Method=Transduction; Gene=UniProtKB; P33967; B.cereus Bsr. Transformant: NCBI_TaxID; 1891767; Simian virus 40 (SV40). Derived from site: In situ; Eye, conjunctival epithelium; UBERON=UBERON_0006763. Cell type: Epithelial cell of conjunctiva; CL=CL_1000432.
Sequence variations	Mutation; HGNC; HGNC:11530; TACSTD2; Simple; p.Gln118Ter (c.352C>T); ClinVar=VCV000016182; Zygosity=Homozygous (PubMed=23818740; PubMed=23868985).
Disease	Gelatinous drop-like corneal dystrophy (NCIt: C142805) Gelatinous drop-like corneal dystrophy (ORDO: Orphanet_98957)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Female
Age at sampling	59Y
Category	Transformed cell line
Publications	PubMed=23818740; PMCID=PMC3671362 Kinoshita S., Kawasaki S., Kitazawa K., Shinomiya K. Establishment of a human conjunctival epithelial cell line lacking the functional TACSTD2 gene (an American Ophthalmological Society thesis). Trans. Am. Ophthalmol. Soc. 110:166-177(2012) PubMed=23868985; DOI=10.1167/iovs.12-11043 Kitazawa K., Kawasaki S., Shinomiya K., Aoi K., Matsuda A., Funaki T., Yamasaki K., Nakatsukasa M., Ebihara N., Murakami A., Hamuro J., Kinoshita S. Establishment of a human corneal epithelial cell line lacking the functional TACSTD2 gene as an in vitro model for gelatinous drop-like dystrophy. Invest. Ophthalmol. Vis. Sci. 54:5701-5711(2013)
Encyclopedic resources	Wikidata; Q54897563
Entry history
Entry creation	03-Feb-2014
Last entry update	19-Dec-2024
Version number	14