ID   MHHi002-A-1
SY   CF[1]iPS5-corr18b13w3C36
DR   hPSCreg; MHHi002-A-1
DR   Wikidata; Q54905556
RX   PubMed=28925369;
RX   PubMed=31080112;
CC   From: Hannover Medical School, LEBAO (MHH); Hannover; Germany.
CC   Sequence variation: Mutation; HGNC; 1884; CFTR; Simple; p.Phe508del (c.1521_1523delCTT); ClinVar=VCV000007105; Zygosity=Heterozygous (PubMed=28925369).
CC   Sequence variation: Mutation; HGNC; 1884; CFTR; Simple_corrected; p.Phe508del (c.1521_1523delCTT); ClinVar=VCV000007105; Zygosity=Heterozygous; Note=By TALEN (PubMed=28925369).
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: 15-11-17; Last updated: 29-06-23; Version: 11
RX   PubMed=28925369; DOI=10.1016/j.scr.2017.07.010;
RA   Merkert S., Bednarski C., Gohring G., Cathomen T., Martin U.;
RT   "Generation of a gene-corrected isogenic control iPSC line from cystic
RT   fibrosis patient-specific iPSCs homozygous for p.Phe508del mutation
RT   mediated by TALENs and ssODN.";
RL   Stem Cell Res. 23:95-97(2017).
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).