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Cellosaurus MHHi002-A-3 (CVCL_XI79)

[Text version]
Cell line name MHHi002-A-3
Synonyms CFTRdTomato4; CF(1)iPS5_CFTRtomatoC4
Accession CVCL_XI79
Resource Identification Initiative To cite this cell line use: MHHi002-A-3 (RRID:CVCL_XI79)
Comments From: Hannover Medical School, LEBAO (MHH); Hannover; Germany.
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).
Transfected with: tdTomato, a bright red fluorescent protein derived from drFP583 (DsRed).
Transfected with: UniProtKB; P00552; Transposon Tn5 neo.
Derived from sampling site: Peripheral blood. Cell type=Endothelial colony forming cell.
Sequence variations
  • Mutation; HGNC; 1884; CFTR; Simple; p.Phe508del (c.1521_1523delCTT); ClinVar=VCV000007105; Zygosity=Homozygous (from parent cell line).
Disease Cystic fibrosis (NCIt: C2975)
Cystic fibrosis (ORDO: Orphanet_586)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Parent: CVCL_QX52 (MHHi002-A)
Sex of cell Male
Age at sampling Age unspecified
Category Induced pluripotent stem cell
Publications

PubMed=31080112; DOI=10.1016/j.stemcr.2019.04.014
Merkert S., Schubert M., Olmer R., Engels L., Radetzki S., Veltman M., Scholte B.J., Zollner J., Pedemonte N., Galietta L.J.V., von Kries J.P., Martin U.
High-throughput screening for modulators of CFTR activity based on genetically engineered cystic fibrosis disease-specific iPSCs.
Stem Cell Reports 12:1389-1403(2019)

Cross-references
Cell line databases/resources hPSCreg; MHHi002-A-3
Encyclopedic resources Wikidata; Q95989457
Entry history
Entry creation19-Dec-2019
Last entry update21-Mar-2023
Version number8