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
//