ID   GM01409
AC   CVCL_J115
SY   GM-1409
DR   CLO; CLO_0030805
DR   Coriell; GM01409
DR   Wikidata; Q54836809
RX   CelloPub=CLPUB00447;
RX   DOI=10.5962/bhl.title.4090;
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   Cell type: Fibroblast; CL=CL_0000057.
DI   NCIt; C129744; Hepatocyte nuclear factor 4-alpha associated monogenic diabetes
DI   ORDO; Orphanet_552; MODY
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_J116 ! GM01410
SX   Female
AG   15Y
CA   Finite cell line
DT   Created: 11-02-13; Last updated: 19-12-24; Version: 18
//
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   DOI=10.5962/bhl.title.4090;
RA   Coriell L.L., Greene A.E.;
RT   "The human genetic mutant cell repository: list of genetic variants,
RT   chromosomal aberrations and normal cell cultures submitted to the
RT   repository. 4th edition. October 1977.";
RL   (In misc. document) Institute for Medical Research (Camden, N.J.); pp.1-171; National Institutes of Health; Bethesda; USA (1977).
//
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).
//