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
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RX   PubMed=8945471; DOI=10.1038/384458a0;
RA   Yamagata, Kazuya
RA   Furuta, Hiroto
RA   Oda, Naohisa
RA   Kaisaki, Pamela J.
RA   Menzel, Stefan
RA   Cox, Nancy Jean
RA   Fajans, Stefan S.
RA   Signorini, Stefano
RA   Stoffel, Markus
RA   Bell, Graeme 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).
//
RX   CelloPub=CLPUB00447;
RA   Mulivor, Richard A.
RA   Suchy, Sharon 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).
//