ID   imHCE_GDLD
AC   CVCL_T054
SY   immortalized Human Conjunctival Epithelial cells from Gelatinous Drop-Like Corneal Dystrophy patient
DR   Wikidata; Q54897563
RX   PubMed=23818740;
RX   PubMed=23868985;
CC   Sequence variation: Mutation; HGNC; HGNC:11530; TACSTD2; Simple; p.Gln118Ter (c.352C>T); ClinVar=VCV000016182; Zygosity=Homozygous (PubMed=23818740; PubMed=23868985).
CC   Genetic integration: Method=Transduction; Gene=HGNC; HGNC:11730; TERT.
CC   Genetic integration: Method=Transduction; Gene=UniProtKB; P03070; SV40 large T antigen.
CC   Genetic integration: Method=Transduction; Gene=UniProtKB; P33967; B.cereus Bsr.
CC   Transformant: NCBI_TaxID; 1891767; Simian virus 40 (SV40).
CC   Derived from site: In situ; Eye, conjunctival epithelium; UBERON=UBERON_0006763.
CC   Cell type: Epithelial cell of conjunctiva; CL=CL_1000432.
DI   NCIt; C142805; Gelatinous drop-like corneal dystrophy
DI   ORDO; Orphanet_98957; Gelatinous drop-like corneal dystrophy
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   59Y
CA   Transformed cell line
DT   Created: 03-02-14; Last updated: 19-12-24; Version: 14
//
RX   PubMed=23818740; PMCID=PMC3671362;
RA   Kinoshita S., Kawasaki S., Kitazawa K., Shinomiya K.;
RT   "Establishment of a human conjunctival epithelial cell line lacking
RT   the functional TACSTD2 gene (an American Ophthalmological Society
RT   thesis).";
RL   Trans. Am. Ophthalmol. Soc. 110:166-177(2012).
//
RX   PubMed=23868985; DOI=10.1167/iovs.12-11043;
RA   Kitazawa K., Kawasaki S., Shinomiya K., Aoi K., Matsuda A., Funaki T.,
RA   Yamasaki K., Nakatsukasa M., Ebihara N., Murakami A., Hamuro J.,
RA   Kinoshita S.;
RT   "Establishment of a human corneal epithelial cell line lacking the
RT   functional TACSTD2 gene as an in vitro model for gelatinous drop-like
RT   dystrophy.";
RL   Invest. Ophthalmol. Vis. Sci. 54:5701-5711(2013).
//