• Mutation; HGNC; HGNC:11272; SPTA1; Simple; p.Ser1163Ala (c.3487T>G); ClinVar=VCV000258929; Zygosity=Homozygous (from child cell lines TK6; WIL2 NS).
  

PubMed=5673231; DOI=10.1002/1097-0142(196809)22:3<517::AID-CNCR2820220305>3.0.CO;2-A
Jay A. Levy, Martii Virolainen, Vittorio Defendi;
Human lymphoblastoid lines from lymph node and spleen.
Cancer 22:517-524(1968)

PubMed=4102022; DOI=10.1002/jcp.1040770215
Richard Alan Lerner, Lon D. Hodge;
Gene expression in synchronized lymphocytes: studies on the control of synthesis of immunoglobulin polypeptides.
J. Cell. Physiol. 77:265-276(1971)

PubMed=4323138; DOI=10.1093/jnci/46.3.647
Jay A. Levy, Donald N. Buell, Charlott Creech, Yashar Hirshaut, Harriette Silverberg;
Further characterization of the WI-L1 and WI-L2 lymphoblastoid lines.
J. Natl. Cancer Inst. 46:647-654(1971)

PubMed=5087481; DOI=10.1126/science.173.3991.60
Richard Alan Lerner, Patricia J. McConahey, Frank James Dixon;
Quantitative aspects of plasma membrane-associated immunoglobulin in clones of diploid human lymphocytes.
Science 173:60-62(1971)

PubMed=4527800; DOI=10.1073/pnas.71.7.2679; PMCID=PMC388531
Julia E. Lever, George Nuki, Jarvis Edwin Seegmiller;
Expression of purine overproduction in a series of 8-azaguanine-resistant diploid human lymphoblast lines.
Proc. Natl. Acad. Sci. U.S.A. 71:2679-2683(1974)

PubMed=174085; DOI=10.1073/pnas.72.12.4971; PMCID=PMC388856
Charles Dean Stiles, Walter Desmond Jr., Gordon Hisashi Sato, Milton H. Saier Jr.;
Failure of human cells transformed by simian virus 40 to form tumors in athymic nude mice.
Proc. Natl. Acad. Sci. U.S.A. 72:4971-4975(1975)

PubMed=1260760
Charles Dean Stiles, Walter Desmond Jr., Lorraine M. Chuman, Gordon Hisashi Sato, Milton H. Saier Jr.;
Growth control of heterologous tissue culture cells in the congenitally athymic nude mouse.
Cancer Res. 36:1353-1360(1976)

PubMed=197600; DOI=10.1126/science.197600
Michael Steven Hershfield, Floyd F. Snyder, Jarvis Edwin Seegmiller;
Adenine and adenosine are toxic to human lymphoblast mutants defective in purine salvage enzymes.
Science 197:1284-1287(1977)

PubMed=893394; DOI=10.1016/S0021-9258(17)40020-2
Michael Steven Hershfield, Jarvis Edwin Seegmiller;
Regulation of de novo purine synthesis in human lymphoblasts. Similar rates of de novo synthesis during growth by normal cells and mutants deficient in hypoxanthine-guanine phosphoribosyltransferase activity.
J. Biol. Chem. 252:6002-6010(1977)

PubMed=6600440; DOI=10.1007/BF02617996
Christel H. Uittenbogaart, Yael Cantor, John L. Fahey;
Growth of human malignant lymphoid cell lines in serum-free medium.
In Vitro 19:67-72(1983)

PubMed=8316623; DOI=10.2307/3578190
Helen Harrington Evans, Marlene Ricanati, Min-Fen Horng, Qiao-Yun Jiang, Jaroslav Mencl, Peggy Louise Olive;
DNA double-strand break rejoining deficiency in TK6 and other human B-lymphoblast cell lines.
Radiat. Res. 134:307-315(1993)