Cellosaurus cell line AG07091 (CVCL

Cellosaurus AG07091 (CVCL_4N48)

Cross-references
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; HGNC:6636; LMNA; Simple; p.Arg471Cys (c.1411C>T) (c.1623C>T); ClinVar=VCV000014503; Zygosity=Heterozygous (PubMed=12768443). Mutation; HGNC; 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 misc. document) Institute for Medical Research (Camden, N.J.); pp.1-351; National Institutes of Health; Bethesda; USA (1994) PubMed=12768443; DOI=10.1007/s10038-003-0025-3 He-Nian Cao, Robert Alexander Hegele; 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)
Cell line collections (Providers)	Coriell; AG07091
Cell line databases/resources	CLO; CLO_0035651
Encyclopedic resources	Wikidata; Q54740534
Entry history
Entry creation	22-Sep-2015
Last entry update	19-Dec-2024
Version number	12