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Cellosaurus GM10668 (CVCL_AJ40)

[Text version]
Cell line name GM10668
Accession CVCL_AJ40
Resource Identification Initiative To cite this cell line use: GM10668 (RRID:CVCL_AJ40)
Comments Part of: R-W pedigree MODY cell line collection.
Population: Caucasian.
Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:5024; HNF4A; Simple; p.Gln277Ter (c.829C>T) (Q268*); ClinVar=VCV000009210; Zygosity=Heterozygous (Coriell=GM10668).
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 10Y
Category Transformed cell line
Publications

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; GM10668
Cell line databases/resources CLO; CLO_0024606
Encyclopedic resources Wikidata; Q54844584
Entry history
Entry creation02-May-2016
Last entry update19-Dec-2024
Version number13