• Mutation; HGNC; 5157; HPRT1; Unexplicit; Ex2-3dup; Zygosity=Hemizygous (PubMed=3296189).
  

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) Institute for Medical Research (Camden, N.J.); pp.1-171; National Institutes of Health; Bethesda (1977)

PubMed=6087154; DOI=10.1038/310412a0
Yang T.P., Patel P.I., Chinault A.C., Stout J.T., Jackson L.G., Hildebrand B.M., Caskey C.T.
Molecular evidence for new mutation at the hprt locus in Lesch-Nyhan patients.
Nature 310:412-414(1984)

PubMed=3021482; DOI=10.1016/0014-4827(86)90181-3
Chang P.L., Gunby J.L., Tomkins D.J., Mak I., Rosa N.E., Mak S.
Transformation of human cultured fibroblasts with plasmids carrying dominant selection markers and immortalizing potential.
Exp. Cell Res. 167:407-416(1986)

PubMed=3296189; DOI=10.1126/science.3296189
Caskey C.T.
Disease diagnosis by recombinant DNA methods.
Science 236:1223-1229(1987)

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

PubMed=14555701
Shammas M.A., Shmookler Reis R.J., Akiyama M., Koley H., Chauhan D., Hideshima T., Goyal R.K., Hurley L.H., Anderson K.C., Munshi N.C.
Telomerase inhibition and cell growth arrest by G-quadruplex interactive agent in multiple myeloma.
Mol. Cancer Ther. 2:825-833(2003)