ID GM13204 AC CVCL_U401 DR CLO; CLO_0013206 DR Coriell; GM13204 DR Wikidata; Q54846380 CC Sequence variation: Mutation; HGNC; HGNC:4878; HEXA; Simple; p.Gly269Ser (c.805G>A); ClinVar=VCV000003898; Zygosity=Heterozygous (Coriell=GM13204). CC Sequence variation: Mutation; HGNC; HGNC:4878; HEXA; Simple; p.Tyr427Ilefs*5 (c.1274_1277dupTATC) (c.1278insTATC); ClinVar=VCV000003889; Zygosity=Heterozygous (Coriell=GM13204). CC Discontinued: Coriell; GM13204; probable. CC Derived from site: In situ; Skin; UBERON=UBERON_0002097. CC Cell type: Fibroblast of skin; CL=CL_0002620. DI NCIt; C85184; Tay-Sachs disease DI ORDO; Orphanet_845; Tay-Sachs disease OX NCBI_TaxID=9606; ! Homo sapiens (Human) SX Female AG 45Y CA Finite cell line DT Created: 03-02-14; Last updated: 19-12-24; Version: 18 //