ID   GM00989
AC   CVCL_CV39
AS   CVCL_W837
SY   GM-989; GM00989B; AG00989; AG-989; AG00989B; AG0989B
DR   CLO; CLO_0029474
DR   CLO; CLO_0036917
DR   Coriell; AG00989
DR   Coriell; GM00989
DR   Wikidata; Q54836584
RX   CelloPub=CLPUB00447;
RX   CelloPub=CLPUB00597;
RX   DOI=10.5962/bhl.title.4090;
RX   PubMed=7253718;
CC   Sequence variation: Mutation; HGNC; 6636; LMNA; Simple; p.Arg644Cys (c.1930C>T); ClinVar=VCV000014527; Zygosity=Heterozygous (Coriell=GM00989).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
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)
SX   Male
AG   20Y
CA   Finite cell line
DT   Created: 13-07-16; Last updated: 30-01-24; Version: 14
//
RX   CelloPub=CLPUB00447;
RA   Mulivor R.A., Suchy S.F.;
RT   "1992/1993 catalog of cell lines. NIGMS human genetic mutant cell
RT   repository. 16th edition. October 1992.";
RL   (In) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda (1992).
//
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   DOI=10.5962/bhl.title.4090;
RA   Coriell L.L., Greene A.E.;
RT   "The human genetic mutant cell repository: list of genetic variants,
RT   chromosomal aberrations and normal cell cultures submitted to the
RT   repository. 4th edition. October 1977.";
RL   (In) Institute for Medical Research (Camden, N.J.); pp.1-171; National Institutes of Health; Bethesda (1977).
//
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).
//