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Cellosaurus IMEDEAi001-F-1 (CVCL_B5LL)

[Text version]
Cell line name IMEDEAi001-F-1
Accession CVCL_B5LL
Resource Identification Initiative To cite this cell line use: IMEDEAi001-F-1 (RRID:CVCL_B5LL)
Comments From: Instituto Mediterraneo de Estudios Avanzados; Esporles; Spain.
Population: Caucasian.
Omics: Array-based CGH.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:1884; CFTR; Simple_corrected; p.Phe508del (c.1521_1523delCTT); ClinVar=VCV000007105; Zygosity=Homozygous; Note=By TALEN (PubMed=32373648).
Disease Cystic fibrosis (NCIt: C2975)
Cystic fibrosis (ORDO: Orphanet_586)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Parent: CVCL_VD78 (IMEDEAi001-F)
Sex of cell Female
Age at sampling 8Y
Category Induced pluripotent stem cell
Publications

PubMed=32373648; DOI=10.1016/j.omtm.2020.04.005; PMCID=PMC7195499
Fleischer A., Vallejo-Diez S., Martin-Fernandez J.M., Sanchez-Gilabert A., Castresana M., del Pozo A., Esquisabel A., Avila S., Castrillo J.L., Gainza E., Pedraz J.L., Vinas M., Bachiller D.
iPSC-derived intestinal organoids from cystic fibrosis patients acquire CFTR activity upon TALEN-mediated repair of the p.F508del mutation.
Mol. Ther. Methods Clin. Dev. 17:858-870(2020)

Cross-references
Cell line databases/resources hPSCreg; IMEDEAi001-F-1
Encyclopedic resources Wikidata; Q111733512
Entry history
Entry creation17-Mar-2022
Last entry update19-Dec-2024
Version number5