ID   MODY1-iPS-B-13
AC   CVCL_VM27
DR   Wikidata; Q95990468
RX   PubMed=29990710;
CC   Population: Caucasian.
CC   Sequence variation: Mutation; 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_AI26 ! GM01430
SX   Male
AG   35Y
CA   Induced pluripotent stem cell
DT   Created: 07-09-18; Last updated: 30-01-24; Version: 10
//
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).
//