ID   GM03265
AC   CVCL_9Q84
SY   GM 03265; GM3265; Lowe 3265
DR   CLO; CLO_0016705
DR   BioSample; SAMN00808329
DR   Coriell; GM03265
DR   Wikidata; Q54837980
RX   CelloPub=CLPUB00387;
RX   CelloPub=CLPUB00447;
RX   PubMed=19700499;
CC   Population: Caucasian.
CC   Donor information: At sampling donor was not affected with oculocerebrorenal syndrome but has a 50% risk.
CC   Derived from sampling site: Cell type=Fibroblast.
DI   NCIt; C84940; Oculocerebrorenal syndrome
DI   ORDO; Orphanet_534; Oculocerebrorenal syndrome of Lowe
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   17FW
CA   Finite cell line
DT   Created: 23-02-16; Last updated: 21-03-23; Version: 10
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=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   PubMed=19700499; DOI=10.1093/hmg/ddp407;
RA   Coon B.G., Mukherjee D., Hanna C.B., Riese D.J. II, Lowe M.,
RA   Aguilar R.C.;
RT   "Lowe syndrome patient fibroblasts display Ocrl1-specific cell
RT   migration defects that cannot be rescued by the homologous Inpp5b
RT   phosphatase.";
RL   Hum. Mol. Genet. 18:4478-4491(2009).