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Cellosaurus GM01837 (CVCL_AI30)

[Text version]
Cell line name GM01837
Synonyms GM-1837
Accession CVCL_AI30
Resource Identification Initiative To cite this cell line use: GM01837 (RRID:CVCL_AI30)
Comments Part of: R-W pedigree MODY cell line collection.
Population: Caucasian.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; 5024; HNF4A; Simple; p.Gln277Ter (c.829C>T) (Q268*); ClinVar=VCV000009210; Zygosity=Heterozygous (PubMed=8945471).
Disease Hepatocyte nuclear factor 4-alpha associated monogenic diabetes (NCIt: C129744)
MODY (ORDO: Orphanet_552)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual CVCL_AI31 ! GM01838
Sex of cell Female
Age at sampling 22Y
Category Finite cell line
Publications

DOI=10.5962/bhl.title.4090
Coriell L.L., Greene A.E.
The human genetic mutant cell repository: list of genetic variants, chromosomal aberrations and normal cell cultures submitted to the repository. 4th edition. October 1977.
(In misc. document) Institute for Medical Research (Camden, N.J.); pp.1-171; National Institutes of Health; Bethesda; USA (1977)

CLPUB00447
Mulivor R.A., Suchy S.F.
1992/1993 catalog of cell lines. NIGMS human genetic mutant cell repository. 16th edition. October 1992.
(In misc. document) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda; USA (1992)

PubMed=8945471; DOI=10.1038/384458a0
Yamagata K., Furuta H., Oda N., Kaisaki P.J., Menzel S., Cox N.J., Fajans S.S., Signorini S., Stoffel M., Bell G.I.
Mutations in the hepatocyte nuclear factor-4alpha gene in maturity-onset diabetes of the young (MODY1).
Nature 384:458-460(1996)

Cross-references
Cell line collections (Providers) Coriell; GM01837
Cell line databases/resources CLO; CLO_0031419
Encyclopedic resources Wikidata; Q54837114
Entry history
Entry creation02-May-2016
Last entry update30-Jan-2024
Version number14