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Cellosaurus RC4-11-10 (CVCL_D3D5)

[Text version]
Cell line name RC4-11-10
Synonyms 4-11-10
Accession CVCL_D3D5
Resource Identification Initiative To cite this cell line use: RC4-11-10 (RRID:CVCL_D3D5)
Comments From: Boston University School of Medicine; Boston; USA.
Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:1884; CFTR; Simple; p.Phe508del (c.1521_1523delCTT); ClinVar=VCV000007105; Zygosity=Heterozygous (from parent cell line).
  • Mutation; HGNC; HGNC:1884; CFTR; Simple_corrected; p.Phe508del (c.1521_1523delCTT); ClinVar=VCV000007105; Zygosity=Homozygous; Note=By ZFN (PubMed=25772471).
Disease Cystic fibrosis (NCIt: C2975)
Cystic fibrosis (ORDO: Orphanet_586)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Parent: CVCL_D3C1 (RC2 204)
Sex of cell Male
Age at sampling 29Y
Category Induced pluripotent stem cell
Web pages https://stemcellbank.bu.edu/Catalog/Item/Details/690
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; Q127384022
Entry history
Entry creation30-Jan-2024
Last entry update19-Dec-2024
Version number3