ID GM08759 AC CVCL_AI94 DR CLO; CLO_0010490 DR Coriell; GM08759 DR Wikidata; Q54843266 RX CelloPub=CLPUB00447; RX PubMed=8945471; CC Part of: R-W pedigree MODY cell line collection. CC Population: Caucasian. CC Sequence variation: Mutation; HGNC; HGNC:5024; HNF4A; Simple; p.Gln277Ter (c.829C>T) (Q268*); ClinVar=VCV000009210; Zygosity=Heterozygous (PubMed=8945471). CC Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV). CC Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178. DI NCIt; C129744; Hepatocyte nuclear factor 4-alpha associated monogenic diabetes DI ORDO; Orphanet_552; MODY OX NCBI_TaxID=9606; ! Homo sapiens (Human) SX Female AG 20Y CA Transformed cell line DT Created: 02-05-16; Last updated: 19-12-24; Version: 14 // RX CelloPub=CLPUB00447; RA Mulivor R.A., Suchy S.F.; RT "1992/1993 catalog of cell lines. NIGMS human genetic mutant cell RT repository. 16th edition. October 1992."; RL (In misc. document) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda; USA (1992). // RX PubMed=8945471; DOI=10.1038/384458a0; RA Yamagata K., Furuta H., Oda N., Kaisaki P.J., Menzel S., Cox N.J., RA Fajans S.S., Signorini S., Stoffel M., Bell G.I.; RT "Mutations in the hepatocyte nuclear factor-4alpha gene in RT maturity-onset diabetes of the young (MODY1)."; RL Nature 384:458-460(1996). //