• Mutation; HGNC; HGNC:2518; CTNS; Simple; p.Pro48Leufs*7 (c.225+5G>A); Zygosity=Heterozygous (PubMed=28649545).
  
• Mutation; HGNC; HGNC:2518; CTNS; Simple; p.Gly339Arg (c.1015G>A); ClinVar=VCV000004455; Zygosity=Heterozygous (PubMed=28649545).
  

DOI=10.5962/bhl.title.4090
Coriell L.L., Greene A.E.
The human genetic mutant cell repository: list of genetic variants, chromosomal aberrations and normal cell cultures submitted to the repository. 4th edition. October 1977.
(In misc. document) Institute for Medical Research (Camden, N.J.); pp.1-171; National Institutes of Health; Bethesda; USA (1977)

CLPUB00387
Coriell L.L., Greene A.E., Mulivor R.A.
The human genetic mutant cell repository: list of genetic variants, chromosomal aberrations and normal cell cultures submitted to the repository. 7th edition. October 1980.
(In misc. document) Institute for Medical Research (Camden, N.J.) NIH 80-2011; pp.1-254; National Institutes of Health; Bethesda; USA (1980)

CLPUB00720
Greene A.E., Mulivor R.A.
1986/1987 catalog of cell lines. NIGMS human genetic mutant cell repository. 13th edition. October 1986.
(In misc. document) Institute for Medical Research (Camden, N.J.) NIH 87-2011; pp.1-549; National Institutes of Health; Bethesda; USA (1986)

CLPUB00447
Mulivor R.A., Suchy S.F.
1992/1993 catalog of cell lines. NIGMS human genetic mutant cell repository. 16th edition. October 1992.
(In misc. document) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda; USA (1992)

PubMed=9792862; DOI=10.1086/302118; PMCID=PMC1377545
Shotelersuk V., Larson D., Anikster Y., McDowell G., Lemons R., Bernardini I., Guo J.-R., Thoene J., Gahl W.A.
CTNS mutations in an American-based population of cystinosis patients.
Am. J. Hum. Genet. 63:1352-1362(1998)

PubMed=28649545; DOI=10.1016/j.ymgmr.2015.10.007; PMCID=PMC5471396
Zykovich A., Kinkade R., Royal G., Zankel T.
CTNS mutations in publicly-available human cystinosis cell lines.
Mol. Genet. Metab. Rep. 5:63-66(2015)