ID   AG03513
AC   CVCL_L610
SY   AG 3513; AG3513; AG03513D; AG03513d
DR   CLO; CLO_0036960
DR   Coriell; AG03513
DR   Wikidata; Q54609778
RX   CelloPub=CLPUB00387;
RX   CelloPub=CLPUB00597;
RX   PubMed=6223188;
RX   PubMed=7176709;
RX   PubMed=7253718;
RX   PubMed=8246632;
RX   PubMed=16126733;
CC   Population: Mexican.
CC   Sequence variation: Mutation; HGNC; HGNC:6636; LMNA; Simple; p.Gly608Gly (c.1824C>T); ClinVar=VCV000014500; Zygosity=Heterozygous; Note=Creates an exonic consensus splice donor sequence that leads to the activation of a cryptic splice site which in turn causes skipping of 150 bp of the LMNA mRNA leading to the deletion of 50 amino acids (from autologous cell line AG03506).
CC   Derived from site: In situ; Arm, skin; UBERON=UBERON_0002427.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C34951; Progeria
DI   ORDO; Orphanet_740; Hutchinson-Gilford progeria syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_L609 ! AG03506
SX   Male
AG   13Y
CA   Finite cell line
DT   Created: 06-05-13; Last updated: 19-12-24; Version: 19
//
RX   PubMed=7176709; DOI=10.1016/0047-6374(82)90061-6;
RA   Tollefsbol, Trygve Olaf
RA   Zaun, M. Rebecca
RA   Gracy, Robert W.
RT   "Increased lability of triosephosphate isomerase in progeria and
RT   Werner's syndrome fibroblasts.";
RL   Mech. Ageing Dev. 20:93-101(1982).
//
RX   PubMed=7253718; DOI=10.1016/0047-6374(81)90027-0;
RA   Das, Nirmal K.
RA   Murphy, Donald G.
RT   "The National Institute on Aging repository cell cultures.";
RL   Mech. Ageing Dev. 16:1-17(1981).
//
RX   CelloPub=CLPUB00387;
RA   Coriell, Lewis Lemon
RA   Greene, Arthur E.
RA   Mulivor, Richard A.
RT   "The human genetic mutant cell repository: list of genetic variants,
RT   chromosomal aberrations and normal cell cultures submitted to the
RT   repository. 7th edition. October 1980.";
RL   (In misc. document) Institute for Medical Research (Camden, N.J.) NIH 80-2011; pp.1-254; National Institutes of Health; Bethesda; USA (1980).
//
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).
//
RX   PubMed=16126733; DOI=10.1093/hmg/ddi326;
RA   Glynn, Michael W.
RA   Glover, Thomas W.
RT   "Incomplete processing of mutant lamin A in Hutchinson-Gilford
RT   progeria leads to nuclear abnormalities, which are reversed by
RT   farnesyltransferase inhibition.";
RL   Hum. Mol. Genet. 14:2959-2969(2005).
//
RX   PubMed=6223188; DOI=10.1016/0047-6374(83)90071-4;
RA   Chapman, M. Lynne
RA   Zaun, M. Rebecca
RA   Gracy, Robert W.
RT   "Changes in NAD levels in human lymphocytes and fibroblasts during
RT   aging and in premature aging syndromes.";
RL   Mech. Ageing Dev. 21:157-167(1983).
//
RX   PubMed=8246632; DOI=10.1016/0047-6374(93)90046-T;
RA   Giro, Maria Gabriella
RA   Davidson, Jeffrey M.
RT   "Familial co-segregation of the elastin phenotype in skin fibroblasts
RT   from Hutchinson-Gilford progeria.";
RL   Mech. Ageing Dev. 70:163-176(1993).
//