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Cellosaurus UHOMi001-A (CVCL_VF21)

[Text version]

Cell line name UHOMi001-A
Synonyms iPCD02.30; PCD02.30
Accession CVCL_VF21
Resource Identification Initiative To cite this cell line use: UHOMi001-A (RRID:CVCL_VF21)
Comments From: University Hospital of Montpellier; Montpellier; France.
Derived from sampling site: Skin.
Sequence variations Mutation; HGNC; 26090; CCDC40; Simple; c.1116_1117delCT; Zygosity=Heterozygous (PubMed=30296669).
Mutation; HGNC; 26090; CCDC40; Simple; c.3180+1G>A; Zygosity=Heterozygous; Note=Splice donor mutation (PubMed=30296669).
Disease Primary ciliary dyskinesia 15 (NCIt: C155999)
Primary ciliary dyskinesia (ORDO: Orphanet_244)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 34Y
Category Induced pluripotent stem cell
Publications

CLPUB00426
Sansac C.
Modelling human bronchial epithelium by induced pluripotent stem cell (iPS) technology.
Thesis PhD (2016), Universite de Montpellier, France

PubMed=30296669; DOI=10.1016/j.scr.2018.09.019
Ahmed E., Sansac C., Fieldes M., Bergougnoux A., Bourguignon C., Mianne J., Arnould C., Vachier I., Assou S., Bourdin A., De Vos J.
Generation of the induced pluripotent stem cell line UHOMi001-A from a patient with mutations in CCDC40 gene causing primary ciliary dyskinesia (PCD).
Stem Cell Res. 33:15-19(2018)

DOI=10.1101/2020.11.29.400358
Ahmed E., Fieldes M., Bourguignon C., Mianne J., Petit A., Vernisse C., Jory M., Cazevieille C., Boukhaddaoui H., Garnett J.P., Massiera G., Vachier I., Assou S., Bourdin A., De Vos J.
Differentiation of human induced pluripotent stem cells into functional airway epithelium.
bioRxiv 2020:11.29.400358-11.29.400358(2020)

Cross-references
Cell line collections ECACC; 66770019
Cell line databases/resources hPSCreg; UHOMi001-A
Biological sample resources BioSamples; SAMEA8477514
Encyclopedic resources Wikidata; Q54990170
Entry history
Entry creation14-May-2018
Last entry update20-May-2021
Version number8