ID   GM11853
AC   CVCL_T824
DR   CLO; CLO_0020027
DR   Coriell; GM11853
DR   Wikidata; Q54845297
CC   Population: Jewish; Ashkenazi.
CC   Sequence variation: Mutation; HGNC; 4878; HEXA; Simple; p.Tyr427Ilefs*5 (c.1274_1277dupTATC) (c.1278insTATC); ClinVar=VCV000003889; Zygosity=Homozygous (Coriell=GM11853).
CC   Derived from site: In situ; Thigh, skin; UBERON=UBERON_0004262.
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)
OI   CVCL_T823 ! GM11852
SX   Male
AG   1Y
CA   Finite cell line
DT   Created: 03-02-14; Last updated: 30-01-24; Version: 15
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