Cellosaurus logo
expasy logo

Cellosaurus GM01430 (CVCL_AI26)

[Text version]
Cell line name GM01430
Synonyms GM-1430
Accession CVCL_AI26
Resource Identification Initiative To cite this cell line use: GM01430 (RRID:CVCL_AI26)
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)
Hierarchy Children:
CVCL_VM21 (MODY1-iPS-B-1)CVCL_VM27 (MODY1-iPS-B-13)CVCL_VM22 (MODY1-iPS-B-5)
CVCL_VM23 (MODY1-iPS-B-6)CVCL_VM24 (MODY1-iPS-B-7)CVCL_VM25 (MODY1-iPS-B-8)
CVCL_VM26 (MODY1-iPS-B-9)
Originate from same individual CVCL_AI24 ! GM01243
Sex of cell Male
Age at sampling 35Y
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) Institute for Medical Research (Camden, N.J.); pp.1-171; National Institutes of Health; Bethesda (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) 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)

PubMed=29990710; DOI=10.1016/j.scr.2018.06.013
Braverman-Gross C., Nudel N., Ronen D., Beer N.L., McCarty M.I., Benvenisty N.
Derivation and molecular characterization of pancreatic differentiated MODY1-iPSCs.
Stem Cell Res. 31:16-26(2018)

Cross-references
Cell line collections (Providers) Coriell; GM01430
Cell line databases/resources CLO; CLO_0030772
Encyclopedic resources Wikidata; Q54836826
Entry history
Entry creation02-May-2016
Last entry update30-Jan-2024
Version number15