Cellosaurus logo
expasy logo

Cellosaurus GM20327 (CVCL_9Y54)

[Text version]
Cell line name GM20327
Accession CVCL_9Y54
Resource Identification Initiative To cite this cell line use: GM20327 (RRID:CVCL_9Y54)
Comments Population: Latino or Hispanic.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:6091; INSR; Simple; p.Glu151Ter (c.451G>T) (E124X); Zygosity=Homozygous (Coriell=GM20327).
Disease Donohue syndrome (NCIt: C84676)
Leprechaunism (ORDO: Orphanet_508)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Children:
CVCL_WI74 (IR-M4)
Sex of cell Female
Age at sampling 2M
Category Finite cell line
Publications

PubMed=26831110; DOI=10.1073/pnas.1525665113; PMCID=PMC4763759
Iovino S., Burkart A.M., Warren L., Patti M.-E., Kahn C.R.
Myotubes derived from human-induced pluripotent stem cells mirror in vivo insulin resistance.
Proc. Natl. Acad. Sci. U.S.A. 113:1889-1894(2016)

Cross-references
Cell line collections (Providers) Coriell; GM20327
Cell line databases/resources CLO; CLO_0027869
Encyclopedic resources Wikidata; Q54850939
Entry history
Entry creation23-Feb-2016
Last entry update19-Dec-2024
Version number13