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Cellosaurus MHHi002-A (CVCL_QX52)

[Text version]
Cell line name MHHi002-A
Synonyms CF[1]iPS5; CF(1)IPS5
Accession CVCL_QX52
Resource Identification Initiative To cite this cell line use: MHHi002-A (RRID:CVCL_QX52)
Comments From: Hannover Medical School, LEBAO (MHH); Hannover; Germany.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Cell type: Endothelial colony forming cell; CL=CL_0009090.
Sequence variations
  • Mutation; HGNC; 1884; CFTR; Simple; p.Phe508del (c.1521_1523delCTT); ClinVar=VCV000007105; Zygosity=Homozygous (PubMed=28925369).
Disease Cystic fibrosis (NCIt: C2975)
Cystic fibrosis (ORDO: Orphanet_586)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Children:
CVCL_QX53 (MHHi002-A-1)CVCL_XI79 (MHHi002-A-3)CVCL_C4PA (MHHi002-A-4)
CVCL_C4PB (MHHi002-A-5)
Sex of cell Male
Age at sampling Age unspecified
Category Induced pluripotent stem cell
Publications

PubMed=28925369; DOI=10.1016/j.scr.2017.07.010
Merkert S., Bednarski C., Gohring G., Cathomen T., Martin U.
Generation of a gene-corrected isogenic control iPSC line from cystic fibrosis patient-specific iPSCs homozygous for p.Phe508del mutation mediated by TALENs and ssODN.
Stem Cell Res. 23:95-97(2017)

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
Biological sample resources BioSamples; SAMEA103885560
Encyclopedic resources Wikidata; Q54905555
Entry history
Entry creation15-Nov-2017
Last entry update29-Jun-2023
Version number11