ID   GM13532
AC   CVCL_AJ80
DR   CLO; CLO_0012445
DR   BioSample; SAMN00802452
DR   Coriell; GM13532
DR   Wikidata; Q54846616
CC   Sequence variation: Mutation; HGNC; HGNC:4195; GCK; Simple; p.Glu279Gln (c.835G>C); ClinVar=VCV000211076; Zygosity=Heterozygous (Coriell=GM13532).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C129741; Glucokinase-associated diabetes mellitus
DI   ORDO; Orphanet_552; MODY
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   64Y
CA   Transformed cell line
DT   Created: 02-05-16; Last updated: 19-12-24; Version: 13
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