ID   GM01837
AC   CVCL_AI30
SY   GM-1837
DR   CLO; CLO_0031419
DR   Coriell; GM01837
DR   Wikidata; Q54837114
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   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)
OI   CVCL_AI31 ! GM01838
SX   Female
AG   22Y
CA   Finite cell line
DT   Created: 02-05-16; Last updated: 19-12-24; Version: 15
//
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   DOI=10.5962/bhl.title.4090;
RA   Coriell, Lewis Lemon
RA   Greene, Arthur 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   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).
//