ID   AG03198
AC   CVCL_L614
SY   AG3198; AG03198A
DR   CLO; CLO_0036985
DR   Coriell; AG03198
DR   Wikidata; Q54609727
RX   CelloPub=CLPUB00387;
RX   CelloPub=CLPUB00597;
RX   PubMed=7253718;
RX   PubMed=8246632;
CC   Population: Caucasian.
CC   Sequence variation: Mutation; 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 AG03259).
CC   Derived from site: In situ; Leg, skin; UBERON=UBERON_0001511.
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_L616 ! AG03199
OI   CVCL_L617 ! AG03259
SX   Female
AG   10Y8M
CA   Finite cell line
DT   Created: 06-05-13; Last updated: 29-06-23; Version: 16
//
RX   CelloPub=CLPUB00387;
RA   Coriell L.L., Greene A.E., Mulivor R.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) Institute for Medical Research (Camden, N.J.) NIH 80-2011; pp.1-254; National Institutes of Health; Bethesda (1980).
//
RX   CelloPub=CLPUB00597;
RG   National Institute on Aging;
RT   "1994 catalog of cell lines. NIA Aging Cell Repository.";
RL   (In) Institute for Medical Research (Camden, N.J.); pp.1-351; National Institutes of Health; Bethesda (1994).
//
RX   PubMed=7253718; DOI=10.1016/0047-6374(81)90027-0;
RA   Das N.K., Murphy D.G.;
RT   "The National Institute on Aging repository cell cultures.";
RL   Mech. Ageing Dev. 16:1-17(1981).
//
RX   PubMed=8246632; DOI=10.1016/0047-6374(93)90046-T;
RA   Giro M.G., Davidson J.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).
//