Cellosaurus cell line 29a (CVCL_8999)

• Mutation; HGNC; 11179; SOD1; Simple; p.Leu145Phe (c.435G>C) (L144F); ClinVar=VCV000586637; Zygosity=Unspecified (PubMed=21293464).
  

PubMed=18669821; DOI=10.1126/science.1158799
Dimos J.T., Rodolfa K.T., Niakan K.K., Weisenthal L.M., Mitsumoto H., Chung W.K., Croft G.F., Saphier G., Leibel R.L., Goland R.S., Wichterle H., Henderson C.E., Eggan K.C.
Induced pluripotent stem cells generated from patients with ALS can be differentiated into motor neurons.
Science 321:1218-1221(2008)

PubMed=21293464; DOI=10.1038/nbt.1783
Boulting G.L., Kiskinis E., Croft G.F., Amoroso M.W., Oakley D.H., Wainger B.J., Williams D.J., Kahler D.J., Yamaki M., Davidow L.S., Rodolfa C.T., Dimos J.T., Mikkilineni S., MacDermott A.B., Woolf C.J., Henderson C.E., Wichterle H., Eggan K.C.
A functionally characterized test set of human induced pluripotent stem cells.
Nat. Biotechnol. 29:279-286(2011)

PubMed=21368825; DOI=10.1038/nature09805
Gore A., Li Z., Fung H.-L., Young J.E., Agarwal S., Antosiewicz-Bourget J., Canto I., Giorgetti A., Israel M.A., Kiskinis E., Lee J.-H., Loh Y.-H., Manos P.D., Montserrat N., Panopoulos A.D., Ruiz S., Wilbert M.L., Yu J.-Y., Kirkness E.F., Izpisua Belmonte J.C., Rossi D.J., Thomson J.A., Eggan K.C., Daley G.Q., Goldstein L.S.B., Zhang K.
Somatic coding mutations in human induced pluripotent stem cells.
Nature 471:63-67(2011)