ID   AG02505
AC   CVCL_X809
SY   AG2505
DR   CLO; CLO_0037003
DR   Coriell; AG02505
DR   Wikidata; Q54609602
RX   CelloPub=CLPUB00387;
RX   CelloPub=CLPUB00597;
RX   PubMed=7253718;
CC   Population: Caucasian; Finnish.
CC   Sequence variation: Mutation; HGNC; HGNC:7523; TRIM37; Simple; c.493-2A>G (p.Arg166Cysfs*10, r.493_497delGAAAG); Zygosity=Homozygous; Note=Splice acceptor mutation (Coriell=AG02505).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C84906; Mulibrey nanism
DI   ORDO; Orphanet_2576; Mulibrey nanism
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   5Y10M
CA   Finite cell line
DT   Created: 05-09-14; Last updated: 19-12-24; Version: 15
//
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 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=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).
//