ID   AG07091
AC   CVCL_4N48
SY   AG07091A
DR   CLO; CLO_0035651
DR   Coriell; AG07091
DR   Wikidata; Q54740534
RX   CelloPub=CLPUB00597;
RX   PubMed=12768443;
CC   Sequence variation: Mutation; HGNC; HGNC:6636; LMNA; Simple; p.Arg471Cys (c.1411C>T) (c.1623C>T); ClinVar=VCV000014503; Zygosity=Heterozygous (PubMed=12768443).
CC   Sequence variation: Mutation; HGNC; HGNC:6636; LMNA; Simple; p.Arg527Cys (c.1579C>T) (c.1791C>T); ClinVar=VCV000014487; Zygosity=Heterozygous (PubMed=12768443).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C123417; Mandibuloacral dysplasia with type A lipodystrophy
DI   ORDO; Orphanet_90153; Mandibuloacral dysplasia with type A lipodystrophy
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   28Y
CA   Transformed cell line
DT   Created: 22-09-15; Last updated: 19-12-24; Version: 12
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RX   CelloPub=CLPUB00597;
RG   National Institute on Aging;
RT   "1994 catalog of cell lines. NIA Aging Cell Repository.";
RL   (In misc. document) Institute for Medical Research (Camden, N.J.); pp.1-351; National Institutes of Health; Bethesda; USA (1994).
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RX   PubMed=12768443; DOI=10.1007/s10038-003-0025-3;
RA   Cao H.-N., Hegele R.A.;
RT   "LMNA is mutated in Hutchinson-Gilford progeria (MIM 176670) but not
RT   in Wiedemann-Rautenstrauch progeroid syndrome (MIM 264090).";
RL   J. Hum. Genet. 48:271-274(2003).
//