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Cellosaurus C17 NKX2-1-GFP (CVCL_D3D6)

[Text version]
Cell line name C17 NKX2-1-GFP
Synonyms C17 NG; C17 NKX2.1-GFP; iPS17 NKX2.1-GFP
Accession CVCL_D3D6
Resource Identification Initiative To cite this cell line use: C17 NKX2-1-GFP (RRID:CVCL_D3D6)
Comments From: Boston University School of Medicine; Boston; USA.
Population: Caucasian.
Characteristics: Using TALEN a eGFP-pA-loxP-PGKp-PuroR-pA-loxP was inserted at the NKX2-1 translational start site.
Genetic integration: Method=TALEN; Gene=FPbase; R9NL8; eGFP (Note=Enhanced GFP).
Genetic integration: Method=TALEN; Gene=UniProtKB; P13249; S.alboniger pac (PuroR).
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 (from parent cell line).
  • Mutation; HGNC; 1884; CFTR; Simple; p.Phe508del (c.1521_1523delCTT); ClinVar=VCV000007105; Zygosity=Heterozygous (from parent cell line).
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)
Children:
CVCL_WN83 (C17 NKX2-1-GFP SFTPC-tdTomato)
Sex of cell Male
Age at sampling 17Y
Category Induced pluripotent stem cell
Web pages https://stemcellbank.bu.edu/Catalog/Item/Details/824
Cross-references
Encyclopedic resources Wikidata; Q127380360
Entry history
Entry creation30-Jan-2024
Last entry update10-Sep-2024
Version number2