ID   GM23937
AC   CVCL_T822
SY   GM23937*B
DR   Coriell; GM23937
DR   SKIP; SKIP000263
DR   SKIP; SKIP004374
DR   Wikidata; Q54853454
CC   Population: Jewish; Ashkenazi.
CC   Sequence variation: Mutation; HGNC; HGNC:4878; HEXA; Simple; p.Tyr427Ilefs*5 (c.1274_1277dupTATC) (c.1278insTATC); ClinVar=VCV000003889; Zygosity=Homozygous (Coriell=GM23937).
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)
HI   CVCL_T824 ! GM11853
SX   Male
AG   1Y
CA   Induced pluripotent stem cell
DT   Created: 03-02-14; Last updated: 19-12-24; Version: 19
//