| Autor: |
Engi Ahmed, Caroline Sansac, Mathieu Fieldes, Anne Bergougnoux, Chloé Bourguignon, Joffrey Mianné, Cécile Arnould, Isabelle Vachier, Said Assou, Arnaud Bourdin, John De Vos |
| Jazyk: |
angličtina |
| Rok vydání: |
2018 |
| Předmět: |
|
| Zdroj: |
Stem Cell Research, Vol 33, Iss , Pp 15-19 (2018) |
| Druh dokumentu: |
article |
| ISSN: |
1873-5061 |
| DOI: |
10.1016/j.scr.2018.09.019 |
| Popis: |
Primary Ciliary Dyskinesia (PCD) is a rare heterogeneous genetic disorder affecting motile cilia structure and function leading to lung disease. We generated induced pluripotent stem cells (iPSCs) from dermal fibroblasts of a female PCD patient carrying disease-causing variants in the CCDC40 gene. Reprogramming was performed with the human OSKM transcription factors using the Sendai-virus delivery system. The resulting transgene free iPSCs had normal karyotype, expressed pluripotency markers, could differentiate into the three germ layers in vivo and retained the disease-causing CCDC40 mutations. This iPSC line could be useful to model PCD disease and test gene therapy strategies.Resource TableUnlabelled TableUnique stem cell line identifierUHOMi001-AAlternative name(s) of stem cell lineiPCD02.30InstitutionInstitute for Regenerative Medicine & Biotherapy (IRMB), Montpellier, FRANCEContact information of distributorJohn De Vos john.devos@inserm.frType of cell lineiPSCOriginhumanAdditional origin infoAge: 34Sex: FemaleCell SourceDermal fibroblastsClonalityClonalMethod of reprogramminghOCT4, hSOX2, hC-MYC, hKLF4 (CytoTune™-iPS 2.0 Sendai Reprogramming Kit - Invitrogen, Thermo Fisher Scientific Inc.)Genetic ModificationYESType of ModificationSpontaneous mutationAssociated diseasePrimary Ciliary DyskinesiaGene/locusCompound Heterozygous mutations the Coiled-Coil Domain Containing 40 Gene (CCDC40): c.1116_1117delCT (Exon 7) and c.3180 + 1G > A (Intron 19)Method of modificationN/AName of transgene or resistanceN/AInducible/constitutive systemN/ADate archived/stock date2018-02-12Cell line repository/bankN/AEthical approvalThe study was approved by the regional scientific ethical committee (CPP Sud Med IV) under the number ID-RCB: 2013-A00892–43/CILIPS, Promoter University Hospital Of Montpellier) and informed consent was obtained from the patient. |
| Databáze: |
Directory of Open Access Journals |
| Externí odkaz: |
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