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Cellosaurus MHHi002-A-3 (CVCL_XI79)

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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 Neo-T2A-dTomato(nuc) construct was integrated in frame in front of the start codon of one of the two alleles of CFTR (PubMed=31080112).
Genetic integration: Method=TALEN; Gene=FPbase; PGG5S; tdTomato (Note=Bright red fluorescent protein derived from drFP583 (DsRed)).
Genetic integration: Method=TALEN; Gene=UniProtKB; P00552; Klebsiella pneumoniae transposon Tn5 neo.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Cell type: Endothelial colony forming cell; CL=CL_0009090.
Sequence variations
  • Mutation; HGNC; 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; PMCID=PMC6565754
Sylvia Merkert, Madline Schubert, Ruth Olmer, Lena Engels, Silke Radetzki, Mieke Veltman, Bob J. Scholte, Janina Zollner, Nicoletta Pedemonte, Luis Juan Vicente Galietta, Jens P. von Kries, Ulrich Martin;
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 update14-Aug-2025
Version number12