ID   IMEDEAi001-E
AC   CVCL_VD77
SY   CFBhiPS3.17
DR   hPSCreg; IMEDEAi001-E
DR   Wikidata; Q54897529
RX   PubMed=29554588;
CC   From: Instituto Mediterraneo de Estudios Avanzados; Esporles; Spain.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 1884; CFTR; Simple; p.Phe508del (c.1521_1523delCTT); ClinVar=VCV000007105; Zygosity=Homozygous (PubMed=29554588).
CC   Derived from sampling site: Skin. Cell type=Fibroblast.
DI   NCIt; C2975; Cystic fibrosis
DI   ORDO; Orphanet_586; Cystic fibrosis
OX   NCBI_TaxID=9606; ! Homo sapiens
OI   CVCL_VD73 ! IMEDEAi001-A
OI   CVCL_VD74 ! IMEDEAi001-B
OI   CVCL_VD75 ! IMEDEAi001-C
OI   CVCL_VD76 ! IMEDEAi001-D
OI   CVCL_VD78 ! IMEDEAi001-F
OI   CVCL_VD79 ! IMEDEAi001-G
SX   Female
AG   8Y
CA   Induced pluripotent stem cell
DT   Created: 14-05-18; Last updated: 17-03-22; Version: 7
//
RX   PubMed=29554588; DOI=10.1016/j.scr.2018.03.004;
RA   Fleischer A., Lorenzo I.M., Palomino E., Aasen T., Gomez F.,
RA   Servera M., Asensio V.J., Galvez V., Izpisua Belmonte J.C.,
RA   Bachiller D.;
RT   "Generation of two induced pluripotent stem cell (iPSC) lines from
RT   p.F508del cystic fibrosis patients.";
RL   Stem Cell Res. 29:1-5(2018).
//