ID   QBRIi010-C
AC   CVCL_A4NY
DR   SKIP; SKIP005887
DR   Wikidata; Q105510627
CC   From: Qatar Biomedical Research Institute; Doha; Quatar.
CC   Population: Egyptian.
CC   Sequence variation: Mutation; HGNC; HGNC:4195; GCK; Simple; p.Leu146Pro (c.437T>C); ClinVar=VCV002428681; Zygosity=Heterozygous (from autologous cell line QBRIi010-A).
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)
OI   CVCL_A4NV ! QBRIi010-A
OI   CVCL_A4NX ! QBRIi010-B
SX   Male
AG   54Y
CA   Induced pluripotent stem cell
DT   Created: 12-01-21; Last updated: 19-12-24; Version: 6
//