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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 site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:26090; CCDC40; Simple; c.1116_1117delCT; Zygosity=Heterozygous (PubMed=30296669).
  • Mutation; HGNC; 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
Caroline Sansac;
Modelling human bronchial epithelium by induced pluripotent stem cell (iPS) technology.
Thesis PhD (2016); Universite de Montpellier; Montpellier; France

PubMed=30296669; DOI=10.1016/j.scr.2018.09.019
Engi Ahmed, Caroline Sansac, Mathieu Fieldes, Anne Bergougnoux, Chloe Bourguignon, Joffrey Mianne, Cecile Arnould, Isabelle Vachier, Said Assou, Arnaud Bourdin, John De Vos;
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
Engi Ahmed, Mathieu Fieldes, Chloe Bourguignon, Joffrey Mianne, Aurelie Petit, Charlotte Vernisse, Myriam Jory, Chantal Cazevieille, Hassan Boukhaddaoui, James P. Garnett, Gladys Massiera ...Show all 15 authors... , Isabelle Vachier, Said Assou, Arnaud Bourdin, John De Vos; Show fewer authors
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 (Providers) EBiSC; UHOMi001-A
ECACC; 66770019 - Discontinued
Cell line databases/resources hPSCreg; UHOMi001-A
Biological sample resources BioSamples; SAMEA8477514
Encyclopedic resources Wikidata; Q54990170
Entry history
Entry creation14-May-2018
Last entry update19-Dec-2024
Version number13