ID   GM00379
AC   CVCL_Y984
SY   GM0379; GM-379
DR   CLO; CLO_0026291
DR   Coriell; GM00379
DR   Wikidata; Q54836194
RX   CelloPub=CLPUB00387;
RX   CelloPub=CLPUB00447;
RX   CelloPub=CLPUB00720;
RX   DOI=10.5962/bhl.title.4090;
RX   PubMed=28649545;
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:2518; CTNS; Simple; p.Trp138Ter (c.414G>A); ClinVar=VCV000004443; Zygosity=Heterozygous (PubMed=28649545).
CC   Sequence variation: Mutation; HGNC; HGNC:2518; CTNS; Simple; c.970+2T>C (IVS11+2T>C); Zygosity=Heterozygous; Note=Splice donor mutation (PubMed=28649545).
CC   Cell type: Fibroblast; CL=CL_0000057.
DI   NCIt; C129932; Nephropathic cystinosis
DI   ORDO; Orphanet_411629; Nephropathic infantile cystinosis
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   4Y
CA   Finite cell line
DT   Created: 10-04-15; Last updated: 19-12-24; Version: 18
//
RX   CelloPub=CLPUB00720;
RA   Greene, Arthur E.
RA   Mulivor, Richard A.
RT   "1986/1987 catalog of cell lines. NIGMS human genetic mutant cell
RT   repository. 13th edition. October 1986.";
RL   (In misc. document) Institute for Medical Research (Camden, N.J.) NIH 87-2011; pp.1-549; National Institutes of Health; Bethesda; USA (1986).
//
RX   CelloPub=CLPUB00447;
RA   Mulivor, Richard A.
RA   Suchy, Sharon F.
RT   "1992/1993 catalog of cell lines. NIGMS human genetic mutant cell
RT   repository. 16th edition. October 1992.";
RL   (In misc. document) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda; USA (1992).
//
RX   DOI=10.5962/bhl.title.4090;
RA   Coriell, Lewis Lemon
RA   Greene, Arthur 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 misc. document) Institute for Medical Research (Camden, N.J.); pp.1-171; National Institutes of Health; Bethesda; USA (1977).
//
RX   PubMed=28649545; DOI=10.1016/j.ymgmr.2015.10.007; PMCID=PMC5471396;
RA   Zykovich, Artem
RA   Kinkade, Renee
RA   Royal, Gary
RA   Zankel, Todd
RT   "CTNS mutations in publicly-available human cystinosis cell lines.";
RL   Mol. Genet. Metab. Rep. 5:63-66(2015).
//
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).
//