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Cellosaurus AG02122 (CVCL_X808)

[Text version]
Cell line name AG02122
Synonyms AG-2122; AG 2122; AG2122
Accession CVCL_X808
Resource Identification Initiative To cite this cell line use: AG02122 (RRID:CVCL_X808)
Comments Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:7523; TRIM37; Simple; c.493-2A>G (p.Arg166Cysfs*10, r.493_497delGAAAG); Zygosity=Homozygous; Note=Splice acceptor mutation (Coriell=AG02122).
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 10Y5M
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 misc. document) Institute for Medical Research (Camden, N.J.); pp.1-171; National Institutes of Health; Bethesda; USA (1977)

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 misc. document) Institute for Medical Research (Camden, N.J.); pp.1-351; National Institutes of Health; Bethesda; USA (1994)

Cross-references
Cell line collections (Providers) Coriell; AG02122
Cell line databases/resources CLO; CLO_0036877
Encyclopedic resources Wikidata; Q54609577
Entry history
Entry creation05-Sep-2014
Last entry update19-Dec-2024
Version number15