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Cellosaurus UHOMi001-A (CVCL_VF21)

[Text version]

Cell line name UHOMi001-A
Synonyms iPCD02.30
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 Heterozygous for CCDC40 c.1116_1117delCT (PubMed=30296669).
Heterozygous for CCDC40 c.3180+1G>A; 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

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)

Cell line databases/resources hPSCreg; UHOMi001-A
Other Wikidata; Q54990170
Entry history
Entry creation14-May-2018
Last entry update12-Jan-2021
Version number7