ID   IMEDEAi001-F-1
AC   CVCL_B5LL
DR   hPSCreg; IMEDEAi001-F-1
DR   Wikidata; Q111733512
RX   PubMed=32373648;
CC   From: Instituto Mediterraneo de Estudios Avanzados; Esporles; Spain.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:1884; CFTR; Simple_corrected; p.Phe508del (c.1521_1523delCTT); ClinVar=VCV000007105; Zygosity=Homozygous; Note=By TALEN (PubMed=32373648).
CC   Omics: Variations; Array-based CGH.
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C2975; Cystic fibrosis
DI   ORDO; Orphanet_586; Cystic fibrosis
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
HI   CVCL_VD78 ! IMEDEAi001-F
SX   Female
AG   8Y
CA   Induced pluripotent stem cell
DT   Created: 17-03-22; Last updated: 10-04-25; Version: 6
//
RX   PubMed=32373648; DOI=10.1016/j.omtm.2020.04.005; PMCID=PMC7195499;
RA   Fleischer A., Vallejo-Diez S., Martin-Fernandez J.M.,
RA   Sanchez-Gilabert A., Castresana M., del Pozo A., Esquisabel A.,
RA   Avila S., Castrillo J.L., Gainza E., Pedraz J.L., Vinas M.,
RA   Bachiller D.;
RT   "iPSC-derived intestinal organoids from cystic fibrosis patients
RT   acquire CFTR activity upon TALEN-mediated repair of the p.F508del
RT   mutation.";
RL   Mol. Ther. Methods Clin. Dev. 17:858-870(2020).
//