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Cellosaurus RC2-1-10 (CVCL_D3C0)

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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: Center for Regenerative 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 Provider; CReM; 689; https://stemcellbank.bu.edu/Catalog/Item/Details/689
Publications

PubMed=25772471; DOI=10.1016/j.stemcr.2015.02.005; PMCID=PMC4400651
Ana M. Crane, Philipp Kramer, Jacquelin H. Bui-Griffith, Wook Joon Chung, Xuan Shirley Li, Manuel Leonardo Gonzalez-Garay, Finn Hawkins, Wei Liao, Daniela Mora, Sangbum Choi, Jian-Bin Wang ...Show all 19 authors... , Helena C. Sun, David E. Paschon, Dmitry Y. Guschin, Phillip D. Gregory, Darrell N. Kotton, Michael C. Holmes, Eric J. Sorscher, Brian R. Davis; Show fewer authors
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 update10-Apr-2025
Version number4