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Cellosaurus GM10155 (CVCL_0I31)

[Text version]
Cell line name GM10155
Synonyms GM10155B
Accession CVCL_0I31
Resource Identification Initiative To cite this cell line use: GM10155 (RRID:CVCL_0I31)
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; 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)
Sex of cell Female
Age at sampling 34Y
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) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda (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; GM10155
Cell line databases/resources CLO; CLO_0029672
Biological sample resources BioSample; SAMN00799777
Encyclopedic resources Wikidata; Q54844258
Entry history
Entry creation10-Apr-2015
Last entry update30-Jan-2024
Version number15