ID   MHHi002-A-3
AC   CVCL_XI79
SY   CFTRdTomato4; CF(1)iPS5_CFTRtomatoC4
DR   hPSCreg; MHHi002-A-3
DR   Wikidata; Q95989457
RX   PubMed=31080112;
CC   From: Hannover Medical School, LEBAO (MHH); Hannover; Germany.
CC   Characteristics: Using TALEN a NeoR-T2A-dTomato(nuc) construct was integrated in frame in front of the start codon of one of the two alleles of CFTR (PubMed=31080112).
CC   Sequence variation: Mutation; HGNC; 1884; CFTR; Simple; p.Phe508del (c.1521_1523delCTT); ClinVar=VCV000007105; Zygosity=Homozygous (from parent cell line).
CC   Transfected with: tdTomato, a bright red fluorescent protein derived from drFP583 (DsRed).
CC   Transfected with: UniProtKB; P00552; Transposon Tn5 neo.
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
CC   Cell type: Endothelial colony forming cell; CL=CL_0009090.
DI   NCIt; C2975; Cystic fibrosis
DI   ORDO; Orphanet_586; Cystic fibrosis
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
HI   CVCL_QX52 ! MHHi002-A
SX   Male
AG   Age unspecified
CA   Induced pluripotent stem cell
DT   Created: 19-12-19; Last updated: 29-06-23; Version: 9
//
RX   PubMed=31080112; DOI=10.1016/j.stemcr.2019.04.014;
RA   Merkert S., Schubert M., Olmer R., Engels L., Radetzki S., Veltman M.,
RA   Scholte B.J., Zollner J., Pedemonte N., Galietta L.J.V.,
RA   von Kries J.P., Martin U.;
RT   "High-throughput screening for modulators of CFTR activity based on
RT   genetically engineered cystic fibrosis disease-specific iPSCs.";
RL   Stem Cell Reports 12:1389-1403(2019).
//