• Mutation; HGNC; 1884; CFTR; Simple; p.Phe508del (c.1521_1523delCTT); ClinVar=VCV000007105; Zygosity=Homozygous (PubMed=15820050).
  

PubMed=15820050; DOI=10.1016/S1472-6483(10)61801-9
Pickering S.J., Minger S.L., Patel M.J., Taylor H., Black C., Burns C.J., Ekonomou A., Braude P.R.
Generation of a human embryonic stem cell line encoding the cystic fibrosis mutation deltaF508, using preimplantation genetic diagnosis.
Reprod. BioMed. Online 10:390-397(2005)

PubMed=17572666; DOI=10.1038/nbt1318
Adewumi O., Aflatoonian B., Ahrlund-Richter L., Amit M., Andrews P.W., Beighton G., Bello P.A., Benvenisty N., Berry L.S., Bevan S., Blum B., Brooking J., Chen K.G., Choo A.B.-H., Churchill G.A., Corbel M., Damjanov I., Draper J.S., Dvorak P., Emanuelsson K., Fleck R.A., Ford A., Gertow K., Gertsenstein M., Gokhale P.J., Hamilton R.S., Hampl A., Healy L.E., Hovatta O., Hyllner J., Imreh M.P., Itskovitz-Eldor J., Jackson J., Johnson J.L., Jones M., Kee K., King B.L., Knowles B.B., Lako M., Lebrin F., Mallon B.S., Manning D., Mayshar Y., McKay R.D.G., Michalska A.E., Mikkola M., Mileikovsky M., Minger S.L., Moore H.D., Mummery C.L., Nagy A., Nakatsuji N., O'Brien C.M., Oh S.K.-W., Olsson C., Otonkoski T., Park K.-Y., Passier R., Patel H., Patel M.J., Pedersen R., Pera M.F., Piekarczyk M.S., Reijo Pera R.A., Reubinoff B.E., Robins A.J., Rossant J., Rugg-Gunn P., Schulz T.C., Semb H., Sherrer E.S., Siemen H., Stacey G.N., Stojkovic M., Suemori H., Szatkiewicz J., Turetsky T.T., Tuuri T., van den Brink S., Vintersten K., Vuoristo S., Ward-van Oostwaard D., Weaver T.A., Young L.A., Zhang W.-D.
Characterization of human embryonic stem cell lines by the International Stem Cell Initiative.
Nat. Biotechnol. 25:803-816(2007)