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Cellosaurus RC2-1-10 (CVCL_D3C0)

[Text version]
Cell line name RC2-1-10
Synonyms 2-1-10; 2/1/10
Accession CVCL_D3C0
Resource Identification Initiative To cite this cell line use: RC2-1-10 (RRID:CVCL_D3C0)
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_C939 (RC2 202 2)
Sex of cell Male
Age at sampling 33Y
Category Induced pluripotent stem cell
Web pages https://stemcellbank.bu.edu/Catalog/Item/Details/689
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; Q127384020
Entry history
Entry creation30-Jan-2024
Last entry update19-Dec-2024
Version number3