Cellosaurus logo
expasy logo

Cellosaurus AG02505 (CVCL_X809)

[Text version]
Cell line name AG02505
Synonyms AG2505
Accession CVCL_X809
Resource Identification Initiative To cite this cell line use: AG02505 (RRID:CVCL_X809)
Comments Population: Caucasian; Finnish.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; 7523; TRIM37; Simple; c.493-2A>G (p.Arg166Cysfs*10, r.493_497delGAAAG); Zygosity=Homozygous; Note=Splice acceptor mutation (Coriell=AG02505).
Disease Mulibrey nanism (NCIt: C84906)
Mulibrey nanism (ORDO: Orphanet_2576)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 5Y10M
Category Finite cell line
Publications

CLPUB00387
Coriell L.L., Greene A.E., Mulivor R.A.
The human genetic mutant cell repository: list of genetic variants, chromosomal aberrations and normal cell cultures submitted to the repository. 7th edition. October 1980.
(In) Institute for Medical Research (Camden, N.J.) NIH 80-2011; pp.1-254; National Institutes of Health; Bethesda (1980)

PubMed=7253718; DOI=10.1016/0047-6374(81)90027-0
Das N.K., Murphy D.G.
The National Institute on Aging repository cell cultures.
Mech. Ageing Dev. 16:1-17(1981)

CLPUB00597
National Institute on Aging
1994 catalog of cell lines. NIA Aging Cell Repository.
(In) Institute for Medical Research (Camden, N.J.); pp.1-351; National Institutes of Health; Bethesda (1994)

Cross-references
Cell line collections (Providers) Coriell; AG02505
Cell line databases/resources CLO; CLO_0037003
Encyclopedic resources Wikidata; Q54609602
Entry history
Entry creation05-Sep-2014
Last entry update30-Jan-2024
Version number14