ID   GM01247
AC   CVCL_H968
SY   GM-1247; GM 1247; GM01247A; GM01247B
DR   CLO; CLO_0030932
DR   BioSample; SAMN00803756
DR   Coriell; GM01247
DR   Wikidata; Q54836735
RX   CelloPub=CLPUB00447;
RX   DOI=10.5962/bhl.title.4090;
RX   PubMed=7313555;
RX   PubMed=8945471;
CC   Part of: R-W pedigree MODY cell line collection.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; 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)
OI   CVCL_H969 ! GM01237
SX   Male
AG   29Y
CA   Transformed cell line
DT   Created: 11-02-13; Last updated: 30-01-24; Version: 20
//
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) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda (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) Institute for Medical Research (Camden, N.J.); pp.1-171; National Institutes of Health; Bethesda (1977).
//
RX   PubMed=7313555; DOI=10.1111/j.1365-3083.1981.tb00178.x;
RA   Simmons J.G., Fuller C.R., Buchanan P.D., Yount W.J.;
RT   "Distribution of surface, cytoplasmic and secreted IgG subclasses in
RT   human lymphoblastoid cell lines and normal peripheral blood
RT   lymphocytes.";
RL   Scand. J. Immunol. 14:1-13(1981).
//
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).
//