Cellosaurus logo
expasy logo

Cellosaurus AG07091 (CVCL_4N48)

[Text version]
Cell line name AG07091
Synonyms AG07091A
Accession CVCL_4N48
Resource Identification Initiative To cite this cell line use: AG07091 (RRID:CVCL_4N48)
Comments Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; 6636; LMNA; Simple; p.Arg471Cys (c.1411C>T) (c.1623C>T); ClinVar=VCV000014503; Zygosity=Heterozygous (PubMed=12768443).
  • Mutation; HGNC; 6636; LMNA; Simple; p.Arg527Cys (c.1579C>T) (c.1791C>T); ClinVar=VCV000014487; Zygosity=Heterozygous (PubMed=12768443).
Disease Mandibuloacral dysplasia with type A lipodystrophy (NCIt: C123417)
Mandibuloacral dysplasia with type A lipodystrophy (ORDO: Orphanet_90153)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 28Y
Category Transformed cell line
Publications

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)

PubMed=12768443; DOI=10.1007/s10038-003-0025-3
Cao H.-N., Hegele R.A.
LMNA is mutated in Hutchinson-Gilford progeria (MIM 176670) but not in Wiedemann-Rautenstrauch progeroid syndrome (MIM 264090).
J. Hum. Genet. 48:271-274(2003)

Cross-references
Cell line collections (Providers) Coriell; AG07091
Cell line databases/resources CLO; CLO_0035651
Encyclopedic resources Wikidata; Q54740534
Entry history
Entry creation22-Sep-2015
Last entry update29-Jun-2023
Version number11