• Mutation; HGNC; HGNC:5157; HPRT1; Unexplicit; Ex6-9del/inv; Zygosity=Heterozygous (from familial inference of GM02227).
  

DOI=10.5962/bhl.title.4090
Lewis Lemon Coriell, Arthur E. Greene;
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)

CLPUB00447
Richard A. Mulivor, Sharon F. Suchy;
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=21335555; DOI=10.1074/jbc.M110.163378; PMCID=PMC3075676
Russell William Jenkins, Christopher J. Clarke, Daniel Canals, Ashley J. Snider, Christopher R. Gault, Linda Heffernan-Stroud, Bill X. Wu, Fabio Simbari, Patrick Roddy, Kazuyuki Kitatani, Lina Marie Obeid, Yusuf A. Hannun;
Regulation of CC ligand 5/RANTES by acid sphingomyelinase and acid ceramidase.
J. Biol. Chem. 286:13292-13303(2011)