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Cellosaurus CF iPSC clone 17 (CVCL_WN85)

[Text version]
Cell line name CF iPSC clone 17
Synonyms C17
Accession CVCL_WN85
Resource Identification Initiative To cite this cell line use: CF iPSC clone 17 (RRID:CVCL_WN85)
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; p.Ile507del (c.1516_1518ATC[1]) (c.1519_1521delATC); ClinVar=VCV000007106; Zygosity=Heterozygous (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_0M23 (GM04320)
Children:
CVCL_D3C2 (17-14-C1)CVCL_D3C3 (17-9-C1)CVCL_D3D6 (C17 NKX2-1-GFP)
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; Q93447053
Entry history
Entry creation24-May-2019
Last entry update30-Jan-2024
Version number10