• Mutation; 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
Levy J.A., Virolainen M., Defendi V.
Human lymphoblastoid lines from lymph node and spleen.
Cancer 22:517-524(1968)

PubMed=4102022; DOI=10.1002/jcp.1040770215
Lerner R.A., Hodge L.D.
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
Levy J.A., Buell D.N., Creech C., Hirshaut Y., Silverberg H.
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
Lerner R.A., McConahey P.J., Dixon F.J.
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
Lever J.E., Nuki G., Seegmiller J.E.
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
Stiles C.D., Desmond W. Jr., Sato G.H., Saier M.H. 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
Stiles C.D., Desmond W. Jr., Chuman L.M., Sato G.H., Saier M.H. 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
Hershfield M.S., Snyder F.F., Seegmiller J.E.
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
Hershfield M.S., Seegmiller J.E.
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
Uittenbogaart C.H., Cantor Y., Fahey J.L.
Growth of human malignant lymphoid cell lines in serum-free medium.
In Vitro 19:67-72(1983)

PubMed=8316623; DOI=10.2307/3578190
Evans H.H., Ricanati M., Horng M.-F., Jiang Q.-Y., Mencl J., Olive P.L.
DNA double-strand break rejoining deficiency in TK6 and other human B-lymphoblast cell lines.
Radiat. Res. 134:307-315(1993)