ID FA9JTOTERT AC CVCL_2897 DR JCRB; JCRB1060 DR JCRB; NIHS0310 DR Wikidata; Q54833219 CC Population: Japanese. CC Sequence variation: Mutation; HGNC; HGNC:3588; FANCG; Simple; c.307+1G>C (IVS3+1G>C); ClinVar=VCV000006714; Zygosity=Homozygous; Note=Splice donor mutation (from parent cell line). CC Genetic integration: Method=Transfection/transduction; Gene=HGNC; HGNC:11730; TERT. CC Discontinued: JCRB; NIHS0310; true. CC Derived from site: In situ; Skin; UBERON=UBERON_0002097. CC Cell type: Fibroblast of skin; CL=CL_0002620. ST Source(s): JCRB=JCRB1060 ST Amelogenin: X,Y ST CSF1PO: 11,12 ST D13S317: 9,12 ST D16S539: 9,11 ST D5S818: 12 ST D7S820: 11 ST TH01: 9 ST TPOX: 8,11 ST vWA: 14 DI NCIt; C125708; Fanconi anemia, complementation group G DI ORDO; Orphanet_84; Fanconi anemia OX NCBI_TaxID=9606; ! Homo sapiens (Human) HI CVCL_2896 ! FA9JTO SX Male AG 7Y CA Telomerase immortalized cell line DT Created: 04-04-12; Last updated: 19-12-24; Version: 20 //