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Cellosaurus 17-9-C1 (CVCL_D3C3)

[Text version]
Cell line name 17-9-C1
Accession CVCL_D3C3
Resource Identification Initiative To cite this cell line use: 17-9-C1 (RRID:CVCL_D3C3)
Comments Population: Caucasian.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; 1884; CFTR; Simple_corrected; p.Ile507del (c.1516_1518ATC[1]) (c.1519_1521delATC); ClinVar=VCV000007106; Zygosity=Heterozygous; Note=By ZFN (PubMed=25772471).
  • Mutation; HGNC; 1884; CFTR; Simple; p.Phe508del (c.1521_1523delCTT); ClinVar=VCV000007105; Zygosity=Heterozygous (PubMed=25772471).
Disease Cystic fibrosis (NCIt: C2975)
Cystic fibrosis (ORDO: Orphanet_586)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Parent: CVCL_WN85 (CF iPSC clone 17)
Sex of cell Male
Age at sampling 17Y
Category Induced pluripotent stem cell
Publications

PubMed=25772471; DOI=10.1016/j.stemcr.2015.02.005; PMCID=PMC4400651
Crane A.M., Kramer P., Bui-Griffith J.H., Chung W.J., Li X.S., Gonzalez-Garay M.L., Hawkins F., Liao W., Mora D., Choi S., Wang J.-B., Sun H.C., Paschon D.E., Guschin D.Y., Gregory P.D., Kotton D.N., Holmes M.C., Sorscher E.J., Davis B.R.
Targeted correction and restored function of the CFTR gene in cystic fibrosis induced pluripotent stem cells.
Stem Cell Reports 4:569-577(2015)

Cross-references
Encyclopedic resources Wikidata; Q127378650
Entry history
Entry creation30-Jan-2024
Last entry update10-Sep-2024
Version number2