ID MODY1-iPS-A-3 AC CVCL_VM20 DR Wikidata; Q95990466 RX PubMed=29990710; CC Population: Caucasian. CC Sequence variation: Mutation; HGNC; HGNC:5024; HNF4A; Simple; p.Gln277Ter (c.829C>T) (Q268*); ClinVar=VCV000009210; Zygosity=Heterozygous (from parent cell line). CC Derived from site: In situ; Skin; UBERON=UBERON_0002097. CC Cell type: Fibroblast of skin; CL=CL_0002620. DI NCIt; C129744; Hepatocyte nuclear factor 4-alpha associated monogenic diabetes DI ORDO; Orphanet_552; MODY OX NCBI_TaxID=9606; ! Homo sapiens (Human) HI CVCL_H970 ! GM01122 SX Female AG 33Y CA Induced pluripotent stem cell DT Created: 07-09-18; Last updated: 19-12-24; Version: 11 // RX PubMed=29990710; DOI=10.1016/j.scr.2018.06.013; RA Braverman-Gross C., Nudel N., Ronen D., Beer N.L., McCarty M.I., RA Benvenisty N.; RT "Derivation and molecular characterization of pancreatic RT differentiated MODY1-iPSCs."; RL Stem Cell Res. 31:16-26(2018). //