ID   UHOMi001-A
AC   CVCL_VF21
SY   iPCD02.30; PCD02.30
DR   BioSamples; SAMEA8477514
DR   EBiSC; UHOMi001-A
DR   ECACC; 66770019
DR   hPSCreg; UHOMi001-A
DR   Wikidata; Q54990170
RX   CelloPub=CLPUB00426;
RX   DOI=10.1101/2020.11.29.400358;
RX   PubMed=30296669;
CC   From: University Hospital of Montpellier; Montpellier; France.
CC   Sequence variation: Mutation; HGNC; 26090; CCDC40; Simple; c.1116_1117delCT; Zygosity=Heterozygous (PubMed=30296669).
CC   Sequence variation: Mutation; HGNC; 26090; CCDC40; Simple; c.3180+1G>A; Zygosity=Heterozygous; Note=Splice donor mutation (PubMed=30296669).
CC   Discontinued: ECACC; 66770019; true.
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C155999; Primary ciliary dyskinesia 15
DI   ORDO; Orphanet_244; Primary ciliary dyskinesia
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   34Y
CA   Induced pluripotent stem cell
DT   Created: 14-05-18; Last updated: 30-01-24; Version: 12
//
RX   CelloPub=CLPUB00426;
RA   Sansac C.;
RT   "Modelling human bronchial epithelium by induced pluripotent stem cell
RT   (iPS) technology.";
RL   Thesis PhD (2016), Universite de Montpellier, France.
//
RX   DOI=10.1101/2020.11.29.400358;
RA   Ahmed E., Fieldes M., Bourguignon C., Mianne J., Petit A., Vernisse C.,
RA   Jory M., Cazevieille C., Boukhaddaoui H., Garnett J.P., Massiera G.,
RA   Vachier I., Assou S., Bourdin A., De Vos J.;
RT   "Differentiation of human induced pluripotent stem cells into
RT   functional airway epithelium.";
RL   bioRxiv 2020:11.29.400358-11.29.400358(2020).
//
RX   PubMed=30296669; DOI=10.1016/j.scr.2018.09.019;
RA   Ahmed E., Sansac C., Fieldes M., Bergougnoux A., Bourguignon C.,
RA   Mianne J., Arnould C., Vachier I., Assou S., Bourdin A., De Vos J.;
RT   "Generation of the induced pluripotent stem cell line UHOMi001-A from
RT   a patient with mutations in CCDC40 gene causing primary ciliary
RT   dyskinesia (PCD).";
RL   Stem Cell Res. 33:15-19(2018).
//